104191-2
Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
Active
57794-0 Newborn screening test results panel - Dried blood spot
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Newborn screening test results panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Panel Name
- Short Name
- NBS test results pnl DBS
- Display Name
- NBS test results panel (DBS)
- Consumer Name Alpha Get Info
- NBS test results panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.67
- Order vs. Observation
- Order
- Panel Type
- Organizer
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de resultados de tests de cribado del recién nacido: |
| es-MX | Spanish (Mexico) | Panel de resultados de la prueba de detección del recién nacido: |
| fr-FR | French (France) | Dépistage néonatal - Résultats des tests panel: |
| it-IT | Italian (Italy) | Screening neonatale, panel risultati test: Synonyms: Chimica Panel risultati test di screening neonatale Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | pasgeborene screening testresultaten panel: |
| pt-BR | Portuguese (Brazil) | Triagem neonatal teste do painel Resultados: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Новорождённый скрининг тест результаты панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 新生儿筛查试验结果组套: Synonyms: Asympt SCN 全血斑点(滤纸); |
53261-4 Amino acid newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Amino acid newborn screen panel
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Panel Name
- Short Name
- AA NB scn Pnl DBS-sCnc
- Display Name
- Amino acid NBS panel (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Amino Acid NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 16129
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de aminoácidos: |
| es-MX | Spanish (Mexico) | Panel de pantalla de aminoácidos para recién nacidos: |
| fr-FR | French (France) | Acides aminés dépistage néonatal panel: |
| fr-BE | French (Belgium) | Profil screening nouveau-né pour amino-acides: |
| it-IT | Italian (Italy) | Aminoacido, panel screening neonatale: Synonyms: Chimica Concentrazione di Sostanza Panel screening neonatale aminoacidi Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuur pasgeborene screeningpanel: |
| pt-BR | Portuguese (Brazil) | Triagem de Aminoácido neonatal painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Амино кислоты новорождённый скрин панель: Synonyms: Аминокислоты новорождённый скрин панель Кровь Кровь сухая капля Молярность; |
| zh-CN | Chinese (China) | 氨基酸新生儿筛查组套: Synonyms: 克分子浓度; |
46733-2 Amino acidemias newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemias
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Panel Name
- Short Name
- Amino acidemias DBS-Imp
- Display Name
- Amino acidemias (DBS) [Interp]
- Consumer Name Alpha Get Info
- Amino acidemias, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1377
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aminoacidemias: |
| es-MX | Spanish (Mexico) | Amino acidemias: |
| fr-CA | French (Canada) | Aminoacidémies: |
| fr-FR | French (France) | Aminoacidémie: |
| fr-BE | French (Belgium) | Aminoacidémies: |
| it-IT | Italian (Italy) | Aminoacidemie: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuuracidemie: |
| pt-BR | Portuguese (Brazil) | Aminoacidemias: Synonyms: AA; |
| ru-RU | Russian (Russian Federation) | Аминоацидемия: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asidemiler: |
| zh-CN | Chinese (China) | 氨基酸血症: Synonyms: AA; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57710-6 Amino acidemias newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemias newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Panel Name
- Short Name
- Amino acidemias NBS comment
- Display Name
- Amino acidemias newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Amino acidemias newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 16991
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aminoacidemias screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Amino acidemias revisión de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Aminoacidémie dépistage néonatal (commentaire/discussion): |
| fr-BE | French (Belgium) | Aminoacidémies Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Aminoacidemie, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per aminoacidemie Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | aminozuuracidemie screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Aminoacidemias na triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Аминоацидемия новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Amino asidemiler yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 氨基酸血症 新生儿筛查注释-讨论: Synonyms: AA; |
57793-2 Amino acidemia disorder suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acidemia disorder suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Panel Name
- Short Name
- Amino acidemia disorder suspected DBS
- Display Name
- Amino acidemia disorder suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Amino acidemia disorder suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 2318
Preferred Answer List LL837-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| CIT-I or CIT-II or ASA | LA12569-2 | ||
| HCY or MET or CBL C | LA12570-0 | ||
| PKU or BIPT-BS or BIOPT-REG or H-PHE | LA12571-8 | ||
| TYR-1 or TYR-II or TYR-III | LA12572-6 | ||
| Maple syrup urine disease Copyright http://snomed.info/sct ID:27718001 Maple syrup urine disease (disorder) | LA21168-2 | ||
| Argininemia | LA21161-7 | ||
| Argininosuccinic aciduria | LA21162-5 | ||
| Carbamoyl-phosphate synthase deficiency Copyright http://snomed.info/sct ID:62522004 Congenital hyperammonemia, type I (disorder) | LA12484-4 | ||
| Citrullinemia, type I Copyright http://snomed.info/sct ID:398680004 Citrullinemia (disorder) | LA12482-8 | ||
| Citrullinemia, type II Copyright http://snomed.info/sct ID:716863007 Citrullinemia type II (disorder) | LA12483-6 | ||
| Dihydrolipoamide dehydrogenase deficiency Copyright http://snomed.info/sct ID:29914000 Dihydrolipoamide dehydrogenase deficiency (disorder) | LA12490-1 | ||
| Biopterin defect in cofactor biosynthesis Copyright http://snomed.info/sct ID:237914002 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency (disorder) | LA12472-9 | ||
| Biopterin defect in cofactor regeneration Copyright http://snomed.info/sct ID:58256000 Dihydropteridine reductase deficiency (disorder) | LA12473-7 | ||
| Girate atrophy of the retina Copyright http://snomed.info/sct ID:314467007 Gyrate atrophy (disorder) | LA12502-3 | ||
| Hypermethioninemia Copyright http://snomed.info/sct ID:43123004 Hypermethioninemia (disorder) | LA12512-2 | ||
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Copyright http://snomed.info/sct ID:30287008 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) | LA12497-6 | ||
| Hyperphenylalaninemia (variant, benign) Copyright http://snomed.info/sct ID:68528007 Hyperphenylalaninemia (disorder) | LA12500-7 | ||
| Hyperprolinemia type I Copyright http://snomed.info/sct ID:61071003 Proline dehydrogenase deficiency (disorder) | LA12521-3 | ||
| Hyperprolinemia type II Copyright http://snomed.info/sct ID:717181004 Hyperprolinemia type 2 (disorder) | LA12522-1 | ||
| Cobalamin E disease Copyright http://snomed.info/sct ID:360373000 Homocystinuria vitamin B12-responsive type III (disorder) | LA12480-2 | ||
| Guanidinoacetate N-methyltransferase deficiency Copyright http://snomed.info/sct ID:124239003 Deficiency of guanidinoacetate methyltransferase (disorder) | LA30113-7 | ||
| L-arginine:glycine amidinotransferase deficiency Copyright http://snomed.info/sct ID:702440000 Cerebral creatine deficiency syndrome 3 (disorder) | LA30114-5 | ||
| Methylene tetrahydrofolate reductase deficiency Copyright http://snomed.info/sct ID:41797007 5,10-Methylenetetrahydrofolate reductase deficiency (disorder) | LA12514-8 | ||
| Nonketotic hyperglycinemia (glycine encephalopathy) Copyright http://snomed.info/sct ID:237939006 Non-ketotic hyperglycinemia (disorder) | LA12516-3 | ||
| Ornithine transcarbamylase deficiency Copyright http://snomed.info/sct ID:80908008 Ornithine carbamoyltransferase deficiency (disorder) | LA12518-9 | ||
| Classic phenylketonuria Copyright http://snomed.info/sct ID:7573000 Classical phenylketonuria (disorder) | LA12520-5 | ||
| Pyroglutamic acidemia Copyright http://snomed.info/sct ID:39112005 Glutathione synthase deficiency with 5-oxoprolinuria (disorder) | LA12469-5 | ||
| Pyruvate carboxylase deficiency Copyright http://snomed.info/sct ID:87694001 Pyruvate carboxylase deficiency (disorder) | LA12519-7 | ||
| Tyrosinemia, type I Copyright http://snomed.info/sct ID:410056006 Tyrosinemia type I (disorder) | LA12528-8 | ||
| Tyrosinemia, type II Copyright http://snomed.info/sct ID:4887000 Hypertyrosinemia, Richner-Hanhart type (disorder) | LA12529-6 | ||
| Tyrosinemia, type III Copyright http://snomed.info/sct ID:415764005 Tyrosinemia type III (disorder) | LA12530-4 | ||
| Valinemia Copyright http://snomed.info/sct ID:47719001 Hypervalinemia (disorder) | LA12503-1 | ||
| X-linked creatine transporter (CRTR) deficiency Copyright http://snomed.info/sct ID:698290008 X-linked creatine deficiency (disorder) | LA30492-5 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Sospecha de desorden de aminoacidemia: |
| es-MX | Spanish (Mexico) | Sospecha de trastorno por aminoacidemia: |
| fr-FR | French (France) | Aminoacidémie désordre suspecté: |
| fr-BE | French (Belgium) | Maladie des Amino-acides suspectée: |
| it-IT | Italian (Italy) | Aminoacidemia, sospetto disturbo: Synonyms: Chimica Presenza o Identità Punto nel tempo (episodio) Sangue Sospetto disturbo di aminoacidemia Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aminozuuracidemiestoornis verdenking: |
| pt-BR | Portuguese (Brazil) | Suspeita de desordem de amino acidemia: Synonyms: Identity or presence; |
| ru-RU | Russian (Russian Federation) | Амино ацидемия расстройство заподозрено: Synonyms: Заподозрено аминоацидурическое расстройство Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asidemi bozukluğu şüphelenilen: |
| zh-CN | Chinese (China) | 疑似氨基酸血症: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
46746-4 Phenylketonuria and variants/Biopterin defects newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Phenylketonuria and variants &or biopterin defects
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Panel Name
- Short Name
- PKU+Var/BIOPT Defects DBS-Imp
- Display Name
- Phenylketonuria and variants/Biopterin defects (DBS) [Interp]
- Consumer Name Alpha Get Info
- Phenylketonuria and Variants/Biopterin defects, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19766
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilcetonuria y variantes/defectos de biopterina: |
| es-MX | Spanish (Mexico) | Fenilcetonuria y variantes o defectos de biopterina: |
| fr-CA | French (Canada) | Défauts phénylcétonurie & variantes &ou Bioptérine Defects: |
| fr-FR | French (France) | Phénylcétonurie et variantes et/ou bioptérine carence: |
| fr-BE | French (Belgium) | Défauts phénylcétonurie & variantes/Bioptérine Defects: |
| it-IT | Italian (Italy) | Fenilchetonuria e varianti &o difetti biopterina: Synonyms: Chimica Fenilchetonuria e varianti/Difetti biopterina Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | fenylketonurie en varianten en/of biopterinedefecten: |
| pt-BR | Portuguese (Brazil) | Fenilcetonúria e variantes e/ou biopterina defeitos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилкетонурия и варианты &или биоптерин дефекты: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Fenilketonüri ve varyantları veveya biyopterin kusurları: |
| zh-CN | Chinese (China) | 苯丙酮尿症和变种和或生物蝶呤缺陷: Synonyms: BIOPT; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58231-2 Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Phenylketonuria and variants &or biopterin defects newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Panel Name
- Short Name
- PKU+Var/BIOPT Defects NBS comment
- Display Name
- Phenylketonuria and variants/Biopterin defects newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Phenylketonuria and Variants/Biopterin defects newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.30
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 19189
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilcetonuria y variantes/defectos de biopterina screnning de recién nacidos comentario-discusión: Synonyms: Comentario/discusión del cribado de la fenilcetonuria y variantes/defectos de biopterina en el recien nacido |
| es-MX | Spanish (Mexico) | Fenilcetonuria y variantes o defectos de la biopterina cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Phénylcétonurie et variantes et/ou bioptérine carence dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Défauts phénylcétonurie & variantes/Bioptérine Defects Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Fenilchetonuria e varianti &o difetti biopterina, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per fenilchetonuria e varianti/difetti biopterina Fenilchetonuria e varianti/Difetti biopterina Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | fenylketonurie en varianten en/of biopterinedefecten screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Fenyloketonuria i jej warianty np, defekty syntezy biopteryny komentarz-dyskusja nad badaniami przesiewowymi noworodka: |
| pt-BR | Portuguese (Brazil) | Fenilcetonúria e variantes e/ou defeitos da biopterina triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилкетонурия и варианты &или биоптерин дефекты новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Fenilketonüri ve varyantları veveya biyopterin kusurları yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 苯丙酮尿症和变种和或生物蝶呤缺陷 新生儿筛查注释-讨论: Synonyms: Asympt BIOPT; |
46743-1 Maple syrup urine disease newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Maple syrup urine disease
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Panel Name
- Short Name
- MSUD DBS-Imp
- Display Name
- Maple syrup urine disease (DBS) [Interp]
- Consumer Name Alpha Get Info
- Maple syrup urine disease, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14378
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad orina jarabe de arce: |
| es-MX | Spanish (Mexico) | Enfermedad de la orina con jarabe de arce: |
| fr-CA | French (Canada) | Leucinose: |
| fr-FR | French (France) | Leucinose: |
| fr-BE | French (Belgium) | Leucinose: |
| it-IT | Italian (Italy) | Sciroppo d'acero, malattia urine: Synonyms: Chimica Impressione/interpretazione di studio Malattia delle urine a sciroppo d''acero Punto nel tempo (episodio) Sangue Sciroppo d''acero Spot sangue secco |
| nl-NL | Dutch (Netherlands) | Maple syrup urine disease: Synonyms: ahornsiroop |
| pt-BR | Portuguese (Brazil) | Maple xarope doença urinária: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кленовый сироп моча болезнь: Synonyms: Болезнь кленового сиропа; |
| tr-TR | Turkish (Turkey) | Akçaağaç şurupu idrar hastalığı: |
| zh-CN | Chinese (China) | 槭糖浆尿病: Synonyms: MSUD; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58230-4 Maple syrup urine disease newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Maple syrup urine disease newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Panel Name
- Short Name
- MSUD NBS comment
- Display Name
- Maple syrup urine disease newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Maple syrup urine disease newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.30
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Enfermedad orina jarabe de arce screnning de recién nacidos comentario-discusión: Synonyms: Comentario/discusión del cribado de la enfermedad del jarabe de arce en el recien nacido |
| es-MX | Spanish (Mexico) | Jarabe de arce, enfermedad de la orina, evaluación del recién nacido, comentario-discusión: |
| fr-FR | French (France) | Leucinose dépistage néonatal (commentaire-discussion): |
| fr-BE | French (Belgium) | Leucinose Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Sciroppo d'acero, malattia urine, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per malattia delle urine a sciroppo d''acero Malattia delle urine a sciroppo d''acero Punto nel tempo (episodio) Sangue Sciroppo d''acero Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | Maple syrup urine disease screening van pasgeborene commentaar-discussie: Synonyms: ahornsiroop |
| pt-BR | Portuguese (Brazil) | Doença do xarope de bordo na urina triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Кленовый сироп моча болезнь новорожденный скрининг комментарий-дискуссия: Synonyms: Болезнь кленового сиропа; |
| tr-TR | Turkish (Turkey) | Akçaağaç şurupu idrar hastalığı yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 槭糖浆尿病 新生儿筛查注释-讨论: Synonyms: Asympt MSUD; |
47539-2 3-Methylhistidine [Moles/volume] in DBS
Term Description
The tentative opinion of the HTSP review (5/13/08) committee was that this marker has no clinical utility based on today's knowledge.
Source: Regenstrief LOINC
Part Descriptions
LP15303-8 3-Methylhistidine
3-Methylhistidine is an amino acid occurring in myofibrillar proteins and important in the synthesis of carnosine. Increased levels of 3-Methylhistidine indicative of active catabolism of muscle protein. Information from Dorland's Medical Dictionary, www.mercksource.com, accessed 2006 11 30.
Source: Regenstrief Institute
LP15303-8 3-Methylhistidine
3-Methylhistidine is a product of peptide bond synthesis and methylation of actin and myosin. The measurement of 3-Methylhistidine provides an index of the rate of muscle protein breakdown.
Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.)
Source: Human Metabolome Database, Human Metabolome Database
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 3-Methylhistidine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- 3Me-histidine DBS-sCnc
- Display Name
- 3-Methylhistidine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 3-Methylhistidine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | 3-Methylhistidin: |
| es-ES | Spanish (Spain) | 3-Metilhistidina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 3-metilhistidina: |
| et-EE | Estonian (Estonia) | 3-metüülhistidiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 3-méthylhistidine: |
| fr-FR | French (France) | 3-méthylhistidine: |
| fr-BE | French (Belgium) | 3-méthylhistidine: |
| it-IT | Italian (Italy) | 3-Metilistidina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 3-methylhistidine: |
| pt-BR | Portuguese (Brazil) | 3-Metilhistidina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | 3-Метилгистидин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 3-Metilhistidin: |
| zh-CN | Chinese (China) | 3-甲基组氨酸: Synonyms: 3Me-His; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53232-5 5-Oxoproline+Pipecolate [Moles/volume] in DBS
Part Descriptions
LP70201-6 5-Oxoproline+Pipecolate
5-Oxoproline+Pipecolate is a primary marker for Pyroglutamic acidemia.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- 5-Oxoproline+Pipecolate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- 5-Oxoproline+Pipecolate DBS-sCnc
- Display Name
- 5-Oxoproline+Pipecolate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 5-Oxoproline+Pipecolate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16828
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 5-Oxoprolina+Pipecolato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 5-Oxoprolina + Pipecolate: |
| et-EE | Estonian (Estonia) | 5-oksoproliin + pipekolaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | 5-oxoproline+Pipécolate: |
| fr-FR | French (France) | Pyroglutamate+pipécolate: |
| fr-BE | French (Belgium) | 5-oxoproline+Pipécolate: |
| it-IT | Italian (Italy) | 5-Oxoprolina+Pipecolato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 5-oxoproline + pipecolaat: |
| pt-BR | Portuguese (Brazil) | 5-Oxoprolina+Pipecolate: Synonyms: Pipa; |
| ru-RU | Russian (Russian Federation) | 5-Оксопролин+Пипеколат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | 5-Okzoprolin+Pipekolat: |
| zh-CN | Chinese (China) | 5-羟脯氨酸+哌啶酸: Synonyms: 5-羟脯氨酸+哌可酸 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53394-3 5-Oxoproline+Pipecolate/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
LP70201-6 5-Oxoproline+Pipecolate
5-Oxoproline+Pipecolate is a primary marker for Pyroglutamic acidemia.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- 5-Oxoproline+Pipecolate/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- 5-Oxoproline+Pipecolate/Phe DBS-sRto
- Display Name
- 5-Oxoproline+Pipecolate/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- 5-Oxoproline+Pipecolate/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | 5-Oxoprolina+Pipecolato/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | 5-oxoprolina + pipecolate / fenilalanina: |
| fr-CA | French (Canada) | 5-oxoproline+Pipécolate/Phénylalanine: |
| fr-FR | French (France) | Pyroglutamate+pipécolate/phénylalanine: |
| fr-BE | French (Belgium) | 5-oxoproline+Pipécolate/Phénylalanine: |
| it-IT | Italian (Italy) | 5-Oxoprolina+Pipecolato/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | 5-oxoproline + pipecolaat/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | 5-oxoprolina+Pipecolate/Fenilalanina: Synonyms: Pipa; |
| ru-RU | Russian (Russian Federation) | 5-Оксопролин+Пипеколат/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | 5-Okzoprolin+Pipekolat/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 5-羟脯氨酸+哌啶酸/苯丙氨酸: Synonyms: 5-羟脯氨酸+哌可酸 Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53150-9 Alanine+Beta Alanine+Sarcosine [Moles/volume] in DBS
Part Descriptions
LP70080-4 Alanine+Beta Alanine+Sarcosine
Alanine+Beta Alanine+Sarcosine is a secondary marker for Pyruvate carboxylase deficiency and Primary lactic acidemia (various types).
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alanine+Beta Alanine+Sarcosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Ala+B-Ala+Sar DBS-sCnc
- Display Name
- Alanine+Beta Alanine+Sarcosine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Alanine+Beta alanine+Sarcosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18874
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Alanina+ Beta alanina+ Sarcosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Alanina + Beta Alanina + Sarcosina: |
| et-EE | Estonian (Estonia) | Alaniin + Beetaalaniin + sarkosiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alanine+ Bêta-alanine+ Sarcosine: Synonyms: #REF! |
| fr-FR | French (France) | Alanine+bêta alanine+sarcosine: |
| fr-BE | French (Belgium) | Alanine+Beta Alanine+Sarcosine: |
| it-IT | Italian (Italy) | Alanina+Beta Alanina+Sarcosina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alanine + bèta-alanine + sarcosine: |
| pt-BR | Portuguese (Brazil) | Alanina+Beta Alanina+Sarcosina: Synonyms: Sar; |
| ru-RU | Russian (Russian Federation) | Аланин+Бета Аланин+Саркозин: Synonyms: Бета-аланин Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Alanin+Beta Alanin+Sarkozin: |
| zh-CN | Chinese (China) | 丙氨酸+Beta 丙氨酸+肌氨酸: Synonyms: Ala; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53393-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine [Molar ratio] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Aile+Ile+Leu+Hyp+Val/Phe+Tyr DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phenylalanine+Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina + Valina/Fenilalanina+Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina + Valina / Fenilalanina + Tirosina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phénylalanine+tyrosine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline+valine/phénylalanine+tyrosine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline+Valine/Phénylalanine+tyrosine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina+Valina/Fenilalanina+Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline + valine/fenylalanine + tyrosine: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina+Valina/Fenilalanina+Tirosina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин+Валин/Фенилаланин+Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin+Valin/Fenilalanin+Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸+缬氨酸/苯丙氨酸+酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53152-5 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Moles/volume] in DBS
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Aile+Ile+Leu+Hyp DBS-sCnc
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19300
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: |
| et-EE | Estonian (Estonia) | Alloisoleutsiin + isoleutsiin + leutsiin + hüdroksüproliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina: Synonyms: Leu; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin: |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53153-3 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine [Molar ratio] in DBS
Term Description
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Aile+Ile+Leu+Hyp/Phe DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina / Fenilalanina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phénylalanine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline/phénylalanine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Phénylalanine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina/Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸/苯丙氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53154-1 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine [Molar ratio] in DBS
Term Description
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine is a primary marker for Maple syrup urine disease and Hydroxyprolinemia.
Source: Regenstrief LOINC
Part Descriptions
LP70081-2 Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
Alloisoleucine+Isoleucine+Leucine+Hydroxyproline is a primary marker for Maple syrup urine disease and Hydroxyprolinemia
Source: Regenstrief LOINC
LP70161-2 Alanine
Alanine is a non-essential amino acid that exists as two distinct enantiomers: L-alanine and D-alanine. Alanine is one of the primary amino acids (secondary to leucine) used for protein construction. It is produced from pyruvate, exists in high levels in plasma, and is involved in the metabolism of sugar and organic acids.[PubChem: Alanine] Alanine acts as a substrate for alanine aminotransferase (ALT), an enzyme commonly measured to determine liver health. Increased alanine levels are seen in patients with lactic acidosis, carbamoyl phosphate synthetase deficiency, histidinemia, hyperprolinemia, and ornithine transcarbamylase deficiency. In patients with a mitochondrial disease, elevated alanine levels are primarily seen during times of physiologic stress or regression. PMID: 18243024
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Aile+Ile+Leu+Hyp/Alanine DBS-sRto
- Display Name
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19229
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina/Alanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina / Alanina: |
| fr-CA | French (Canada) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine: |
| fr-FR | French (France) | Alloisoleucine+isoleucine+leucine+hydroxyproline/alanine: |
| fr-BE | French (Belgium) | Alloisoleucine+Isoleucine+Leucine+Hydroxyproline/Alanine: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Alloisoleucina+Isoleucina+Leucina+Idrossiprolina/Alanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | alloisoleucine + isoleucine + leucine + hydroxyproline/alanine: |
| pt-BR | Portuguese (Brazil) | Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina/Alanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин/Аланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Alloizolösin+İzolösin+Lösin+Hidroksiprolin/Alanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸/丙氨酸: Synonyms: Ala Ala; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47562-4 Arginine [Moles/volume] in DBS
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Arginine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Arginine DBS-sCnc
- Display Name
- Arginine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19379
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Arginin /Trockenblut |
| es-ES | Spanish (Spain) | Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina: |
| et-EE | Estonian (Estonia) | Arginiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Arginine: |
| fr-FR | French (France) | Arginine: |
| fr-BE | French (Belgium) | Arginine: |
| it-IT | Italian (Italy) | Arginina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine: |
| pt-BR | Portuguese (Brazil) | Arginina: Synonyms: Arg; |
| ru-RU | Russian (Russian Federation) | Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Arjinin: |
| zh-CN | Chinese (China) | 精氨酸: Synonyms: 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
75214-7 Arginine/Ornithine [Molar ratio] in DBS
Term Description
Arginine/Ornithine is a marker for argininemia, which is one of the secondary conditions on the HHS Secretary's Recommended Uniform Screening Panel for newborn screening.
Source: Regenstrief LOINC
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Arginine/Ornithine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Arginine/Ornithine DBS-sRto
- Display Name
- Arginine/Ornithine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Arginine/Ornithine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginina/Ornitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina / Ornitina: |
| fr-FR | French (France) | Arginine/ornithine: |
| it-IT | Italian (Italy) | Arginina/Ornitina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine/ornithine: |
| pt-BR | Portuguese (Brazil) | Arginina/Ornitina: |
| ru-RU | Russian (Russian Federation) | Аргинин/Орнитин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjinin/Ornitin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨酸/鸟氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
53398-4 Arginine/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP15416-8 Arginine
Arginine (symbol Arg or R) is an amino acid. The L-form (L-arginine) is one of the 20 most common natural amino acids. In mammals, arginine is classified as a conditionally essential amino acid, depending on the developmental stage and health status of the individuals. Infants are unable to effectively synthesize arginine, making it nutritionally essential for them. Adults, however, are able to synthesize arginine in the urea cycle. The body uses arginine for a variety of purposes, including boosting immune system function and improving blood flow. Arginine sources include diet, medication, and/or nutritional supplements. Dietary sources include meat, dairy products and fish.
Source: Medline Plus, MedlinePlus: L-arginine
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Arginine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Arginine/Phe DBS-sRto
- Display Name
- Arginine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Arginine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Arginina / Fenilalanina: |
| fr-CA | French (Canada) | Arginine/Phénylalanine: |
| fr-FR | French (France) | Arginine/phénylalanine: |
| fr-BE | French (Belgium) | Arginine/Phénylalanine: |
| it-IT | Italian (Italy) | Arginina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | arginine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Arginina/Fenilalanina: Synonyms: Arg; |
| ru-RU | Russian (Russian Federation) | Аргинин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjinin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨酸/苯丙氨酸: Synonyms: 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53062-6 Argininosuccinate [Moles/volume] in DBS
Part Descriptions
LP15417-6 Argininosuccinate
Argininosuccinic acid is a chemical compound that belongs to the class of the amino acids. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is ASS.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Argininosuccinate (Wikipedia)
LP15417-6 Argininosuccinate
Argininosuccinate is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Argininosuccinate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Argininosuccinate DBS-sCnc
- Display Name
- Argininosuccinate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Argininosuccinate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19840
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Argininosuccinat: |
| es-ES | Spanish (Spain) | Arginosuccinato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Argininosuccinato: |
| et-EE | Estonian (Estonia) | Argininosuksinaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Argininosuccinate: |
| fr-FR | French (France) | Argininosuccinate: |
| fr-BE | French (Belgium) | Argininosuccinate: |
| it-IT | Italian (Italy) | Argininosuccinato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | argininosuccinaat: |
| pt-BR | Portuguese (Brazil) | Argininosuccinato: Synonyms: ASA; |
| ru-RU | Russian (Russian Federation) | Аргининосукцинат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Arjininosüksinat: |
| zh-CN | Chinese (China) | 精氨基琥珀酸: Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53200-2 Argininosuccinate/Arginine [Molar ratio] in DBS
Term Description
Argininosuccinate/Arginine is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Part Descriptions
LP15417-6 Argininosuccinate
Argininosuccinic acid is a chemical compound that belongs to the class of the amino acids. Some cells synthesize it from citrulline, aspartic acid and use it as a precursor for arginine in the urea cycle or Citrulline-NO cycle. The enzyme that catalyzes the reaction is ASS.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Argininosuccinate (Wikipedia)
LP15417-6 Argininosuccinate
Argininosuccinate is a primary marker for Argininosuccinic aciduria.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Argininosuccinate/Arginine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Argininosuccinate/Arginine DBS-sRto
- Display Name
- Argininosuccinate/Arginine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Argininosuccinate/Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Arginosuccinato/Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Argininosuccinato / Arginina: |
| fr-CA | French (Canada) | Argininosuccinate/Arginine: |
| fr-FR | French (France) | Argininosuccinate/arginine: |
| fr-BE | French (Belgium) | Argininosuccinate/Arginine: |
| it-IT | Italian (Italy) | Argininosuccinato/Arginina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | argininosuccinaat/arginine: |
| pt-BR | Portuguese (Brazil) | Argininosuccinato/Arginina: Synonyms: ASA; |
| ru-RU | Russian (Russian Federation) | Аргининосукцинат/Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Arjininosüksinat/Arjinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 精氨基琥珀酸/精氨酸: Synonyms: 2-氨基-5-胍基戊酸 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53155-8 Asparagine+Ornithine [Moles/volume] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Asparagine+Ornithine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Asn+Orn DBS-sCnc
- Display Name
- Asparagine+Ornithine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17405
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina: |
| et-EE | Estonian (Estonia) | Asparagiin + ornitiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Asparagine+Ornithine: |
| fr-FR | French (France) | Asparagine+ornithine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine: |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina: Synonyms: Orn; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin: |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53395-0 Asparagine+Ornithine/Serine [Molar ratio] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Asparagine+Ornithine/Serine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Asn+Orn/Serine DBS-sRto
- Display Name
- Asparagine+Ornithine/Serine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine/Serine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina/Serina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina / Serina: |
| fr-CA | French (Canada) | Asparagine+Ornithine/Sérine: |
| fr-FR | French (France) | Asparagine+ornithine/sérine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine/Sérine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina/Serina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine/serine: |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina/Serina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин/Серин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin/Serin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸/丝氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53396-8 Asparagine+Ornithine/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP70082-0 Asparagine+Ornithine
Asparagine+Ornithine is a primary marker for Hyper ORN. Secondary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.
Source: Regenstrief LOINC
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Asparagine+Ornithine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Asn+Orn/Phe DBS-sRto
- Display Name
- Asparagine+Ornithine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Asparagine+Ornithine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Asparragina + Ornitina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Asparagina + Ornitina / Fenilalanina: |
| fr-CA | French (Canada) | Asparagine+Ornithine/Phénylalanine: |
| fr-FR | French (France) | Asparagine+ornithine/phénylalanine: |
| fr-BE | French (Belgium) | Asparagine+Ornithine/Phénylalanine: |
| it-IT | Italian (Italy) | Asparagina+Ornitina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | asparagine + ornithine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Asparagina+Ornitina/Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Аспарагин+Орнитин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Asparajin+ornitin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 天冬酰胺+鸟氨酸/苯丙氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47573-1 Aspartate [Moles/volume] in DBS
Part Descriptions
LP15425-9 Aspartate
Aspartic acid (Asp), also known as aspartate, the name of its anion, is one of the 20 natural proteinogenic amino acids which are the building blocks of proteins. As with each of the 20 natural amino acids, there are two abbreviations commonly used to designate aspartic acid: Asp (three letter) and D (one letter). The abbreviations signifying a choice of either aspartic acid or asparagine are Asx (three-letter) and B (one letter). As its name indicates, aspartic acid is the carboxylic acid analog of asparagine. It is non-essential in mammals, and might serve as an excitatory neurotransmitter in the brain. It is also a metabolite in the urea cycle, and participates in gluconeogenesis. As a neurotransmitter, aspartic acid may provide resistance to fatigue and thus lead to endurance, although the evidence to support this idea is not strong.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Aspartate (Wikipedia)
LP15425-9 Aspartate
Aspartic acid is a dicarboxylic amino acid with acidic R groups which is a cosubstrate with glutamic acid for aspartate aminotransferase (AST). Aspartic acid is used in pyrimidine biosynthesis and is a metabolite in the urea cycle and participates in gluconeogenesis. Increased in dicarboxylic aminoaciduria. (Information from ARUP Laboratories 9/14/06)
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Aspartate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Aspartate DBS-sCnc
- Display Name
- Aspartate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Aspartate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Aspartato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Aspartato: |
| et-EE | Estonian (Estonia) | Aspartaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Aspartate: |
| fr-FR | French (France) | Aspartate: |
| fr-BE | French (Belgium) | Aspartate: |
| it-IT | Italian (Italy) | Aspartato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | aspartaat: |
| pt-BR | Portuguese (Brazil) | Aspartato: Synonyms: Asp; |
| ru-RU | Russian (Russian Federation) | Аспартат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Aspartat: |
| zh-CN | Chinese (China) | 天门冬氨酸: Synonyms: Asp; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
42892-0 Citrulline [Moles/volume] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Citrulline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Citrulline DBS-sCnc
- Display Name
- Citrulline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16315
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Citrullin: |
| de-AT | German (Austria) | Synonyms: Citrullin /Trockenblut |
| es-ES | Spanish (Spain) | Citrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina: |
| fr-CA | French (Canada) | Citrulline: |
| fr-FR | French (France) | Citrulline: |
| fr-BE | French (Belgium) | Citrulline: |
| it-IT | Italian (Italy) | Citrullina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 시트룰린: |
| nl-NL | Dutch (Netherlands) | citrulline: |
| pt-BR | Portuguese (Brazil) | Citrulina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Sitrüllin: |
| zh-CN | Chinese (China) | 瓜氨酸: Synonyms: Citr 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
54092-2 Citrulline/Arginine [Molar ratio] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Citrulline/Arginine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Citrulline/Arginine DBS-sRto
- Display Name
- Citrulline/Arginine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Arginine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 15794
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Arginina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Arginina: |
| fr-CA | French (Canada) | Citrulline/Arginine: |
| fr-FR | French (France) | Citrulline/arginine: |
| fr-BE | French (Belgium) | Citrulline/Arginine: |
| it-IT | Italian (Italy) | Citrullina/Arginina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/arginine: |
| pt-BR | Portuguese (Brazil) | Citrulina/Arginina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Аргинин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Arjinin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/精氨酸: Synonyms: 2-氨基-5-胍基戊酸 2-氨基-5-胍基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53157-4 Citrulline/Phenylalanine [Molar ratio] in DBS
Term Description
Citrulline/Phenylalanine is a primary marker for Citrullinemia type I, Tyrosinemia type II, Citrullinemia type II and Pyruvate carboxylase deficiency. Secondary marker for Carbamoyltransferase deficiency, Ornithine transcarbamylase deficiency, and Pyruvate carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Citrulline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Citrulline/Phe DBS-sRto
- Display Name
- Citrulline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Fenilalanina: |
| fr-CA | French (Canada) | Citrulline/Phénylalanine: |
| fr-FR | French (France) | Citrulline/phénylalanine: |
| fr-BE | French (Belgium) | Citrulline/Phénylalanine: |
| it-IT | Italian (Italy) | Citrullina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Citrulina/Fenilalanina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/苯丙氨酸: Synonyms: Citr Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53399-2 Citrulline/Tyrosine [Molar ratio] in DBS
Part Descriptions
LP15504-1 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
LP32175-9 Tyrosine
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese[ citationneeded ]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. It has a phenol side chain with a hydroxyl group. Upon the location of the hydroxyl group, there are three structural isomers of Tyr, namely para-Tyr (p-Tyr), meta-Tyr (m-Tyr) and ortho-Tyr (o-Tyr). Enzymatically, only the first isomer (p-Tyr) is produced from L-Phe by the Phe-hydroxylase enzyme. The other two isoforms, m-Tyr and o-Tyr can be produced as a consequence of free radical attack on Phe in states with increased oxidative stress.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tyrosine (Wikipedia)
LP32175-9 Tyrosine
A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Citrulline/Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Citrulline/Tyr DBS-sRto
- Display Name
- Citrulline/Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Citrulline/Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Citrulina/Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Citrulina / Tirosina: |
| fr-CA | French (Canada) | Citrulline/Tyrosine: |
| fr-FR | French (France) | Citrulline/tyrosine: |
| fr-BE | French (Belgium) | Citrulline/Tyrosine: |
| it-IT | Italian (Italy) | Citrullina/Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | citrulline/tyrosine: |
| pt-BR | Portuguese (Brazil) | Citrulina/Tirosina: Synonyms: Cit; |
| ru-RU | Russian (Russian Federation) | Цитруллин/Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Sitrüllin/Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 瓜氨酸/酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47623-4 Glutamate [Moles/volume] in DBS
Part Descriptions
LP15605-6 Glutamate
Glutamic acid (Glu), also referred to as glutamate (the anion), is one of the 20 proteinogenic, essential amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Glutamate (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glutamate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Glutamate DBS-sCnc
- Display Name
- Glutamate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Glutamate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Glutamato: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glutamato: |
| et-EE | Estonian (Estonia) | Glutamaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glutamate: |
| fr-FR | French (France) | Glutamate: |
| fr-BE | French (Belgium) | Glutamate: |
| it-IT | Italian (Italy) | Glutammato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glutamaat: |
| pt-BR | Portuguese (Brazil) | Glutamato: Synonyms: Glu; |
| ru-RU | Russian (Russian Federation) | Глутамат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glutamat: |
| zh-CN | Chinese (China) | 谷氨酸: Synonyms: Glu 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47633-3 Glycine [Moles/volume] in DBS
Part Descriptions
LP15620-5 Glycine
A non-essential amino acid found primarily in gelatin and silk fibroin. It also inhibits neurotransmitters.
Source: National Library of Medicine, MeSH 2006
LP15620-5 Glycine
Glycine is a hydrophilic amino acid with uncharged polar groups and is used in the biosynthesis of purines and porphyrins. Increased with nonketotic hyperglycinemia, arginosuccinic aciduria, carbamoyl phosphate synthetase deficiency, lysinuric protein intolerance, hyperprolinemia, iminoglycinuria, and ornithine transcarbamylase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Glycine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Glycine DBS-sCnc
- Display Name
- Glycine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Glycine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19175
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Glycin /Trockenblut |
| es-ES | Spanish (Spain) | Glicina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Glicina: |
| et-EE | Estonian (Estonia) | Glütsiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Glycine: |
| fr-FR | French (France) | Glycine: |
| fr-BE | French (Belgium) | Glycine: |
| it-IT | Italian (Italy) | Glicina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | glycine: |
| pt-BR | Portuguese (Brazil) | Glicina: Synonyms: Gly; |
| ru-RU | Russian (Russian Federation) | Глицин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Glisin: |
| zh-CN | Chinese (China) | 甘氨酸: Synonyms: Gly; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
93488-5 Guanidinoacetate [Moles/volume] in DBS
Part Descriptions
LP30825-1 Guanidinoacetate
Guanidinoacetate is the immediate precursor of creatine. Guanidinoacetate methyltransferase (GAMT) is the enzyme responsible for converting guanidinoacetate to creatine, and GAMT deficiency causes is a rare, autosomal recessive disorder whose manifestations include seizures, developmental delay, learning difficulties, and autism. Motor function is relatively spared. GAMT deficiency leads to elevated levels of plasma and urine guanidinoacetate, and low plasma creatine and creatinine levels. Elevated levels of guanidinoacetate in the brain are one cause of seizures in patients with GAMT deficiency. The primary treatment is creatine supplementation, which may be combined with ornithine supplementation and arginine restriction. Early diagnosis and treatment may prevent organ damage and preserve cognitive function. If the diagnosis does not occur early and brain damage has already occurred at the time of diagnosis, creatine supplementation can still help control seizures and improve quality of life. PMID: 28119378
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Guanidinoacetate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Guanidinoacetate DBS-sCnc
- Display Name
- Guanidinoacetate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Guanidinoacetate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.67
- Last Updated
- Version 2.67
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Guanidinoacetato: |
| es-ES | Spanish (Spain) | Guanidinoacetato: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Guanidinoatsetaat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Guanidinoacétate: |
| fr-BE | French (Belgium) | Guanidinoacétate: |
| fr-CA | French (Canada) | Guanidinoacétate: |
| it-IT | Italian (Italy) | Guanidinoacetato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | guanidinoacetaat: |
| ru-RU | Russian (Russian Federation) | Гуанидинацетат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Guanidinoasetat: |
| zh-CN | Chinese (China) | 胍基乙酸: Synonyms: GAA; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47643-2 Histidine [Moles/volume] in DBS
Part Descriptions
LP15637-9 Histidine
An essential amino acid that is required for the synthesis of histamine.
Source: National Library of Medicine, MeSH 2006
LP15637-9 Histidine
Histidine is one of the 20 naturally occuring amino acids with basic R groups. It serves as a precursor for histamine and carnosine biosynthesis. Its levels are increased with histidinemia and formiminoglutamic aciduria. (Information from ARUP Laboratories 9/14/06). Common dietary sources of histidine are: apples, pomogranates, alfalfa, beets, carrots, celery, cucumber, dandelion, endive, garlic, radish, spinach, and turnip greens.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Histidine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Histidine DBS-sCnc
- Display Name
- Histidine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Histidine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Histidina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Histidina: |
| et-EE | Estonian (Estonia) | Histidiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Histidine: |
| fr-FR | French (France) | Histidine: |
| fr-BE | French (Belgium) | Histidine: |
| it-IT | Italian (Italy) | Istidina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | histidine: |
| pt-BR | Portuguese (Brazil) | Histidina: Synonyms: His; |
| ru-RU | Russian (Russian Federation) | Гистидин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Histidin: |
| zh-CN | Chinese (China) | 组氨酸: Synonyms: His; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53158-2 Homocitrulline [Moles/volume] in DBS
Part Descriptions
LP15640-3 Homocitrulline
Homocitrulline is a primary marker for Hyperornithinemia-Hyperammonemia-Homocitrullinuria. Secondary marker for Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Homocitrulline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Homocitrulline DBS-sCnc
- Display Name
- Homocitrulline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Homocitrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Homocitrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Homocitrulina: |
| et-EE | Estonian (Estonia) | Homotsitruliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Homocitrulline: |
| fr-FR | French (France) | Homocitrulline: |
| fr-BE | French (Belgium) | Homocitrulline: |
| it-IT | Italian (Italy) | Omocitrullina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | homocitrulline: |
| pt-BR | Portuguese (Brazil) | Homocitrulina: Synonyms: Hci; |
| ru-RU | Russian (Russian Federation) | Гомоцитруллин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Homositrüllin: |
| zh-CN | Chinese (China) | 同型瓜氨酸: Synonyms: Hci 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47689-5 Lysine [Moles/volume] in DBS
Part Descriptions
LP15716-1 Lysine
An essential amino acid often added to animal feed.
Source: National Library of Medicine, MeSH 2006
LP15716-1 Lysine
Lysine is an essential basic amino acid that plays a major role in calcium absorption and the production of hormones, enzymes, and antibodies. Lack of lysine can result in niacin deficiency and cause the pellagra. Other diseases associated with lysine include hyperlysinemia, lysine intolerance, carbamoyl phosphate synthetase deficiency, and saccharopinuria (saccharopine is an intermediate in the metabolism of lysine).
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Lysine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Lysine DBS-sCnc
- Display Name
- Lysine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Lysine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Lisina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Lisina: |
| et-EE | Estonian (Estonia) | Lüsiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Lysine: |
| fr-FR | French (France) | Lysine: |
| fr-BE | French (Belgium) | Lysine: |
| it-IT | Italian (Italy) | Lisina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | lysine: |
| pt-BR | Portuguese (Brazil) | Lisina: Synonyms: Lys; |
| ru-RU | Russian (Russian Federation) | Лизин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Lizin: |
| zh-CN | Chinese (China) | 赖氨酸: Synonyms: 2,6-二氨基已酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47700-0 Methionine [Moles/volume] in DBS
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methionine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Methionine DBS-sCnc
- Display Name
- Methionine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Methionine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16316
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Methionin /Trockenblut |
| es-ES | Spanish (Spain) | Metionina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina: |
| et-EE | Estonian (Estonia) | Metioniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Méthionine: |
| fr-FR | French (France) | Méthionine: |
| fr-BE | French (Belgium) | Méthionine: |
| it-IT | Italian (Italy) | Metionina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine: |
| pt-BR | Portuguese (Brazil) | Metionina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Metiyonin: |
| uk-UA | Ukrainian (Ukraine) | Метіонін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 蛋氨酸: Synonyms: Met; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53397-6 Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline [Molar ratio] in DBS
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Methionine/Aile+Ile+Leu+Hyp DBS-sRto
- Display Name
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Methionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Metionina/Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina / Aloisoleucina + Isoleucina + Leucina + Hidroxiprolina: |
| fr-CA | French (Canada) | Méthionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: |
| fr-FR | French (France) | Méthionine/alloisoleucine+isoleucine+leucine+hydroxyproline: |
| fr-BE | French (Belgium) | Méthionine/Alloisoleucine+Isoleucine+Leucine+Hydroxyproline: Synonyms: OH-Proline |
| it-IT | Italian (Italy) | Metionina/Alloisoleucina+Isoleucina+Leucina+Idrossiprolina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine/allo-isoleucine + isoleucine + leucine + hydroxyproline: |
| pt-BR | Portuguese (Brazil) | Metionina/Aloisoleucina+Isoleucina+Leucina+Hidroxiprolina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин/Аллоизолейцин+Изолейцин+Лейцин+Гидроксипролин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Metiyonin/Alloizolösin+İzolösin+Lösin+Hidroksiprolin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 蛋氨酸/别异亮氨酸+异亮氨酸+亮氨酸+羟脯氨酸: Synonyms: Hyp; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53156-6 Methionine/Phenylalanine [Molar ratio] in DBS
Term Description
Methionine/Phenylalanine is a primary marker for Homocystinuria, Hypermethioninemia, Methylene tetrahydrofolate reductase deficiency, Methylcobalamin deficiency and Homocystinuria-megaloblastic anemia. Secondary marker for Methylmalonic aciduria and homocystinuria.
Source: Regenstrief LOINC
Part Descriptions
LP15730-2 Methionine
Methionine is an essential nonpolar amino acid, and a lipotropic. Methionine and cysteine are the only sulfur-containing proteinogenic amino acids. The methionine derivative S-adenosyl methionine (SAM) serves as a methyl donor. Methionine plays a role in cysteine, carnitine and taurine synthesis by the transsulfuration pathway, lecithin production, the synthesis of phosphatidylcholine and other phospholipids. Improper conversion of methionine can lead to atherosclerosis. Methionine, a chelating agent, is one of only two amino acids encoded by a single codon (AUG) in the standard genetic code (tryptophan, encoded by UGG, is the other). The codon AUG is also significant, in that it carries the Start message for a ribosome to begin protein translation from mRNA. As a consequence, methionine is incorporated into the N-terminal position of all proteins in eukaryotes and archaea during translation, although it is usually removed by post-translational modification.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Methionine (Wikipedia)
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Methionine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Methionine/Phe DBS-sRto
- Display Name
- Methionine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Methionine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Methionin/Phenylalanin: |
| es-ES | Spanish (Spain) | Metionina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Metionina / Fenilalanina: |
| fr-CA | French (Canada) | Méthionine/Phénylalanine: |
| fr-FR | French (France) | Méthionine/phénylalanine: |
| fr-BE | French (Belgium) | Méthionine/Phénylalanine: |
| it-IT | Italian (Italy) | Metionina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | methionine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Metionina/Fenilalanina: Synonyms: Met; |
| ru-RU | Russian (Russian Federation) | Метионин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Metiyonin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 蛋氨酸/苯丙氨酸: Synonyms: Met; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
75215-4 Ornithine/Citrulline [Molar ratio] in DBS
Term Description
Ornithine/Citrulline is a marker for gyrate atrophy of the retina, ornithine transcarbamylase deficiency, carbamoyl-phosphate synthase deficiency, and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, which are all conditions that some states include on their newborn screening panel.
Source: Regenstrief LOINC
Part Descriptions
LP15753-4 Ornithine
Ornithine is an amino acid that, under the action of the enzyme arginase on L-arginine, yields urea. Therefore, ornithine is a central part of the urea cycle, which eliminates excess nitrogen. Ornithine is not an amino acid coded by DNA, and in that sense, it is not involved in protein synthesis. In mammalian non-hepatic tissues, however, the urea cycle is mainly involved in arginine biosynthesis, making ornithine an important metabolic process. It is not directly a product of the the genetic code because polypeptides containing unprotected ornithines undergo spontaneous lactamization. This proved to be a problem when ornithine was originally classified among the other 20 naturally occuring amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Ornithine (Wikipedia)
LP15753-4 Ornithine
An amino acid produced in the urea cycle when the enzyme arginase cleaves off urea from arginine.
Source: National Library of Medicine, MeSH 2006
LP70358-4 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Ornithine/Citrulline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Ornithine/Cit DBS-sRto
- Display Name
- Ornithine/Citrulline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Ornithine/Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19291
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Ornitina/Citrulina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Ornitina / Citrulina: |
| fr-CA | French (Canada) | Ornithine/Citrulline: |
| fr-FR | French (France) | Ornithine/citrulline: |
| fr-BE | French (Belgium) | Ornithine/Citrulline: |
| it-IT | Italian (Italy) | Ornitina/Citrullina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | ornithine/citrulline: |
| pt-BR | Portuguese (Brazil) | Ornitina/Citrulina: |
| ru-RU | Russian (Russian Federation) | Орнитин/Цитруллин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Ornitin/Sitrüllin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 鸟氨酸/瓜氨酸: Synonyms: 2,5-二氨基戊酸; |
Example Units
| Unit | Source |
|---|---|
| {ratio} | Example UCUM Units |
29573-3 Phenylalanine [Moles/volume] in DBS
Part Descriptions
LP15792-2 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Phenylalanine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Phe DBS-sCnc
- Display Name
- Phenylalanine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.03
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 4629
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 79621-9 | Phenylalanine and Tyrosine panel - DBS |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG49958-8 | Phenylalanine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Phenylalanin /Trockenblut |
| de-DE | German (Germany) | Phenylalanin: |
| es-ES | Spanish (Spain) | Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fenilalanina: |
| es-AR | Spanish (Argentina) | fenilalanina: |
| et-EE | Estonian (Estonia) | Fenüülalaniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Phénylalanine: |
| fr-FR | French (France) | Phénylalanine: |
| fr-BE | French (Belgium) | Phénylalanine: |
| it-IT | Italian (Italy) | Fenilalanina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 페닐알라닌: |
| nl-NL | Dutch (Netherlands) | fenylalanine: |
| pl-PL | Polish (Poland) | Fenyloalanina: |
| pt-BR | Portuguese (Brazil) | Fenilalanina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Fenilalanin: |
| uk-UA | Ukrainian (Ukraine) | Фенілаланін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 苯丙氨酸: Synonyms: Phe; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mmol/L | eCHN |
35572-7 Phenylalanine/Tyrosine [Molar ratio] in DBS
Part Descriptions
LP15792-2 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
LP32175-9 Tyrosine
Tyrosine (from the Greek tyros, meaning cheese, as it was first discovered in cheese[ citationneeded ]), 4-hydroxyphenylalanine, or 2-amino-3(4-hydroxyphenyl)-propanoic acid, is one of the 20 amino acids that are used by cells to synthesize proteins. It has a phenol side chain with a hydroxyl group. Upon the location of the hydroxyl group, there are three structural isomers of Tyr, namely para-Tyr (p-Tyr), meta-Tyr (m-Tyr) and ortho-Tyr (o-Tyr). Enzymatically, only the first isomer (p-Tyr) is produced from L-Phe by the Phe-hydroxylase enzyme. The other two isoforms, m-Tyr and o-Tyr can be produced as a consequence of free radical attack on Phe in states with increased oxidative stress.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tyrosine (Wikipedia)
LP32175-9 Tyrosine
A non-essential amino acid. In animals it is synthesized from PHENYLALANINE. It is also the precursor of EPINEPHRINE; THYROID HORMONES; and melanin.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Phenylalanine/Tyrosine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Phe/Tyr DBS-sRto
- Display Name
- Phenylalanine/Tyrosine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Phenylalanine/Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 3731
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Fenilalanina/Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Fenilalanina / Tirosina: |
| es-AR | Spanish (Argentina) | fenilalanina/tirosina: |
| fr-CA | French (Canada) | Phénylalanine/Tyrosine: |
| fr-FR | French (France) | Phénylalanine/tyrosine: |
| fr-BE | French (Belgium) | Phénylalanine/Tyrosine: |
| it-IT | Italian (Italy) | Fenilalanina/Tirosina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 페닐알라닌/티로신: |
| nl-NL | Dutch (Netherlands) | fenylalanine/tyrosine: |
| pl-PL | Polish (Poland) | Fenyloalanina/tyrozyna: |
| pt-BR | Portuguese (Brazil) | Fenilalanina/Tirosina: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Фенилаланин/Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Fenilalanin/Tirozin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 苯丙氨酸/酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47732-3 Proline [Moles/volume] in DBS
Part Descriptions
LP15818-5 Proline
L-Proline is one of the twenty proteinogenic units used in the building blocks of proteins. The other nineteen units are all primary amino acids, but due to the cyclic binding of the three-carbon side chain to the nitrogen of the backbone, proline lacks a primary amine group (ˆ'NH2). The nitrogen in proline is referred to as a secondary amine. Proline is sometimes called an amino acid, although the IUPAC definition of an amine requires a carbon-nitrogen double bond.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Proline (Wikipedia)
LP15818-5 Proline
Proline is an amino acid that is the cyclized form of glutamic acid. The hydroxylation of proline increases the stability of collagen and is critical for maintaining connective tissue. Increased with iminoglycinuria,Type I and II hyperprolinemia, and lysinuric protein intolerance.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Proline
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Proline DBS-sCnc
- Display Name
- Proline (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Proline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19909
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Prolin /Trockenblut |
| es-ES | Spanish (Spain) | Prolina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Prolina: |
| et-EE | Estonian (Estonia) | Proliin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Proline: |
| fr-FR | French (France) | Proline: |
| fr-BE | French (Belgium) | Proline: |
| it-IT | Italian (Italy) | Prolina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | proline: |
| pt-BR | Portuguese (Brazil) | Prolina: Synonyms: Pro; |
| ru-RU | Russian (Russian Federation) | Пролин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Prolin: |
| zh-CN | Chinese (China) | 脯氨酸: Synonyms: Pro 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53392-7 Proline/Phenylalanine [Molar ratio] in DBS
Part Descriptions
LP15818-5 Proline
L-Proline is one of the twenty proteinogenic units used in the building blocks of proteins. The other nineteen units are all primary amino acids, but due to the cyclic binding of the three-carbon side chain to the nitrogen of the backbone, proline lacks a primary amine group (ˆ'NH2). The nitrogen in proline is referred to as a secondary amine. Proline is sometimes called an amino acid, although the IUPAC definition of an amine requires a carbon-nitrogen double bond.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Proline (Wikipedia)
LP15818-5 Proline
Proline is an amino acid that is the cyclized form of glutamic acid. The hydroxylation of proline increases the stability of collagen and is critical for maintaining connective tissue. Increased with iminoglycinuria,Type I and II hyperprolinemia, and lysinuric protein intolerance.
Source: Regenstrief Institute
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Proline/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Proline/Phe DBS-sRto
- Display Name
- Proline/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Proline/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.70
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Prolin/Phenylalanin: |
| es-ES | Spanish (Spain) | Prolina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Prolina / Fenilalanina: |
| fr-CA | French (Canada) | Proline/Phénylalanine: |
| fr-FR | French (France) | Proline/phénylalanine: |
| fr-BE | French (Belgium) | Proline/Phénylalanine: |
| it-IT | Italian (Italy) | Prolina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | proline/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Prolina/Fenilalanina: Synonyms: Pro; |
| ru-RU | Russian (Russian Federation) | Пролин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Prolin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 脯氨酸/苯丙氨酸: Synonyms: Phe Phe; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
47742-2 Serine [Moles/volume] in DBS
Part Descriptions
LP15861-5 Serine
Serine, one of the 20 amino acids, is commonly found in animal proteins. Only the L-stereoisomer appears in nature. It is not essential to the human diet, because it can be synthesized from other metabolites, including glycine. Serine was first obtained from silk protein, a particularly rich source, in 1865. Its name is derived from the Latin for silk, sericum. Serine's structure was established in 1902.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Serine (Wikipedia)
LP15861-5 Serine
Serine is classified as an hydroxylic amino acid. Its levels in urine are elevated in hyperprolinemia, cystinosis, and Hartnup disease.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Serine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Serine DBS-sCnc
- Display Name
- Serine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Serine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Serina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Serina: |
| et-EE | Estonian (Estonia) | Seriin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Sérine: |
| fr-FR | French (France) | Sérine: |
| fr-BE | French (Belgium) | Sérine: |
| it-IT | Italian (Italy) | Serina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | serine: |
| pt-BR | Portuguese (Brazil) | Serina: Synonyms: Ser; |
| ru-RU | Russian (Russian Federation) | Серин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Serin: |
| zh-CN | Chinese (China) | 丝氨酸: Synonyms: Ser 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53231-7 Succinylacetone [Moles/volume] in DBS
Part Descriptions
LP15872-2 Succinylacetone
Succinylacetone is a primary marker for Tyrosinemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Succinylacetone
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Succinylacetone DBS-sCnc
- Display Name
- Succinylacetone (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Succinylacetone, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17177
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Succinilacetona: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Succinilacetona: |
| et-EE | Estonian (Estonia) | Suktsinüülatsetoon: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Succinylacétone: |
| fr-FR | French (France) | Succinylacétone: |
| fr-BE | French (Belgium) | Succinylacétone: |
| it-IT | Italian (Italy) | Succinilacetone: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | succinylaceton: |
| pt-BR | Portuguese (Brazil) | Succinil acetona: Synonyms: SUAC; |
| ru-RU | Russian (Russian Federation) | Сукцинилацетон: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Süksinilaseton: |
| zh-CN | Chinese (China) | 琥珀酰丙酮: Synonyms: SA 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
47784-4 Threonine [Moles/volume] in DBS
Part Descriptions
LP15890-4 Threonine
Threonine, one of the 20 naturally occuring amino acids, is nutritionally essential in humans because they cannot synthesze it. Threonine contains two chiral centers, so there are four possible stereoisomers of threonine, or two possible diastereomers of L-threonine. However, the name L-threonine is used for one single enantiomer, (2 S ,3 R)-2-amino-3-hydroxybutanoic acid. The second diastereomer (2 S ,3 S), which is rarely present in nature, is called L-allo-threonine. The threonine side chain can undergo O-linked glycosylation. Threonine can become phosphorylated through the action of a threonine kinase. In its phosphorylated form, it is referred to as phosphothreonine. Foods high in threonine are cottage cheese, poultry, fish, meat, lentils, and sesame seeds. Threonine is a secondary marker for citrullinemia type II, an inherited disorder that causes ammonia and other toxic products to accumulate in the blood.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Threonine (Wikipedia)
LP15890-4 Threonine
An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, cottage cheese, poultry, fish, meat, lentils, sesame seeds and other proteins.
Source: National Library of Medicine, MeSH 2006
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Threonine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Threonine DBS-sCnc
- Display Name
- Threonine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Threonine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Treonina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Treonina: |
| et-EE | Estonian (Estonia) | Treoniin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Thréonine: |
| fr-FR | French (France) | Thréonine: |
| fr-BE | French (Belgium) | Thréonine: |
| it-IT | Italian (Italy) | Treonina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | threonine: |
| pt-BR | Portuguese (Brazil) | Treonina: Synonyms: Thr; |
| ru-RU | Russian (Russian Federation) | Треонин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Treonin: |
| zh-CN | Chinese (China) | 苏氨酸: Synonyms: Beta-羟丁氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53159-0 Tryptophan [Moles/volume] in DBS
Part Descriptions
LP15931-6 Tryptophan
Tryptophan is an amino acid and essential in human nutrition. It is one of the 20 amino acids in the genetic code (codon UGG). Only the L-stereoisomer appears in mammalian protein, however the D-stereoisomer is occasionally found in natural materials (for example, the marine venom peptide contryphan).
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Tryptophan (Wikipedia)
LP15931-6 Tryptophan
An essential amino acid that is necessary for normal growth in infants and for NITROGEN balance in adults. It is a precursor of INDOLE ALKALOIDS in plants. It is a precursor of SEROTONIN (hence its use as an antidepressant and sleep aid). It can be a precursor to NIACIN, albeit inefficiently, in mammals.
Source: National Library of Medicine, MeSH 2006
LP15931-6 Tryptophan
Tryptophoan (or L-tryptophan) is an amino acid, a protein building block that can be found in many plant and animal proteins. L-tryptophan is called an "essential" amino acid because the body can't make it. It must be acquired from food. L-tryptophan is used for insomnia, sleep apnea, depression, anxiety, facial pain, a severe form of premenstrual syndrome called premenstrual dysphoric disorder (PMDD), smoking cessation, grinding teeth during sleep (bruxism), attention deficit-hyperactivity disorder (ADHD), Tourette's syndrome, and to improve athletic performance. L-tryptophan is naturally found in animal and plant proteins. L-tryptophan is considered an essential amino acid because our bodies can't make it. It is important for the development and functioning of many organs in the body. After absorbing L-tryptophan from food, our bodies convert it to 5-HTP (5-hyrdoxytryptophan), and then to serotonin. Serotonin is a hormone that transmits signals between nerve cells. It also causes blood vessels to narrow. Changes in the level of serotonin in the brain can alter mood.
Source: Medline Plus, MedlinePlus: L-tryptophan
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tryptophan
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Tryptophan DBS-sCnc
- Display Name
- Tryptophan (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Tryptophan, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Triptófano: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Triptófano: |
| et-EE | Estonian (Estonia) | Trüptopfaan: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tryptophane: |
| fr-FR | French (France) | Tryptophane: |
| fr-BE | French (Belgium) | Tryptophane: |
| it-IT | Italian (Italy) | Triptofano: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | tryptofaan: |
| pt-BR | Portuguese (Brazil) | Triptofano: Synonyms: c244; |
| ru-RU | Russian (Russian Federation) | Триптофан: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Triptofan: |
| zh-CN | Chinese (China) | 色氨酸: Synonyms: B 吲哚基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
35571-9 Tyrosine [Moles/volume] in DBS
Part Descriptions
LP15793-0 Tyrosine
Tyrosine is an aromatic amino acid and its urine levels rise in tyrosinemia, TNT (Transient Neonatal Tyrosinemia), cystinosis, hartnup disease, methionine malabsorption, and alkaptonuria.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Tyrosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Tyrosine DBS-sCnc
- Display Name
- Tyrosine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Tyrosine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 4630
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
| 79621-9 | Phenylalanine and Tyrosine panel - DBS |
| 94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Member of these Groups Get Info
| LOINC Group | Group Name |
|---|---|
| LG49975-2 | Tyrosine| |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Tyrosin /Trockenblut |
| de-DE | German (Germany) | Tyrosin: |
| es-ES | Spanish (Spain) | Tirosina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Tirosina: |
| es-AR | Spanish (Argentina) | cristales de tirosina: |
| et-EE | Estonian (Estonia) | Türosiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Tyrosine: |
| fr-FR | French (France) | Tyrosine: |
| fr-BE | French (Belgium) | Tyrosine: |
| it-IT | Italian (Italy) | Tirosina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 티로신: |
| nl-NL | Dutch (Netherlands) | tyrosine: |
| pt-BR | Portuguese (Brazil) | Tirosina: Synonyms: Tyr; |
| ru-RU | Russian (Russian Federation) | Тирозин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Tirozin: |
| uk-UA | Ukrainian (Ukraine) | Тирозин: Synonyms: Blood; |
| zh-CN | Chinese (China) | 酪氨酸: Synonyms: 3-对羟苯基丙氨酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mcmol/L | REGENSTRIEF |
47799-2 Valine [Moles/volume] in DBS
Part Descriptions
LP15946-4 Valine
Valine, one of the 20 proteinogenic amino acids, is nutritionally essential. It is named after the plant valerian. Foods that are good sources of valine include cottage cheese, fish, poultry, peanuts, sesame seeds, and lentils. In sickle cell disease, the replacement of an A by T in the beta chain gene of hemoglobin changes the codon GAG (for glutamic acid) to GTG (which encodes valine). Thus valine, a hydrophic amnio acid, replaces glutamic acid, a hydrophilic amino acid, causing hemoglobin to not fold correctly. It is also a precursor in the penicillin biosynthetic pathway.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Valine (Wikipedia)
LP15946-4 Valine
A branched-chain essential amino acid that stimulates activity and promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
Source: National Library of Medicine, MeSH 2006
LP15946-4 Valine
Valine is a branched-chain amino acid that stimulates activity and promotes muscle growth and tissue repair. It is elevated in branched-chain ketoaciduria (maple syrup urine disease), along with leucine, isoleucine, and alloisoleucine.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Valine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Valine DBS-sCnc
- Display Name
- Valine (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Valine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 16392
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 94571-7 | Branched chain amino acid panel - DBS |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: Valin /Trockenblut |
| es-ES | Spanish (Spain) | Valina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Valina: |
| et-EE | Estonian (Estonia) | Valiin: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Valine: |
| fr-FR | French (France) | Valine: |
| fr-BE | French (Belgium) | Valine: |
| it-IT | Italian (Italy) | Valina: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | valine: |
| pt-BR | Portuguese (Brazil) | Valina: Synonyms: Val; |
| ru-RU | Russian (Russian Federation) | Валин: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Valin: |
| uk-UA | Ukrainian (Ukraine) | Валін: Synonyms: Blood; |
| zh-CN | Chinese (China) | 缬氨酸: Synonyms: Alpha-氨基异戊酸; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
53151-7 Valine/Phenylalanine [Molar ratio] in DBS
Term Description
Valine/Phenylalanine is a primary marker for Maple syrup urine disease and Valinemia.
Source: Regenstrief LOINC
Part Descriptions
LP15946-4 Valine
Valine, one of the 20 proteinogenic amino acids, is nutritionally essential. It is named after the plant valerian. Foods that are good sources of valine include cottage cheese, fish, poultry, peanuts, sesame seeds, and lentils. In sickle cell disease, the replacement of an A by T in the beta chain gene of hemoglobin changes the codon GAG (for glutamic acid) to GTG (which encodes valine). Thus valine, a hydrophic amnio acid, replaces glutamic acid, a hydrophilic amino acid, causing hemoglobin to not fold correctly. It is also a precursor in the penicillin biosynthetic pathway.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Valine (Wikipedia)
LP15946-4 Valine
A branched-chain essential amino acid that stimulates activity and promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.
Source: National Library of Medicine, MeSH 2006
LP15946-4 Valine
Valine is a branched-chain amino acid that stimulates activity and promotes muscle growth and tissue repair. It is elevated in branched-chain ketoaciduria (maple syrup urine disease), along with leucine, isoleucine, and alloisoleucine.
Source: Regenstrief Institute
LP70160-4 Phenylalanine
Phenylalanine is an essential alpha-amino acid. It exists in two forms, a D and an L form, which are enantiomers (mirror-image molecules) of each other. It has a benzyl side chain and its name comes from its chemical structures that consists of a phenyl group substituted for one of the hydrogens in the side chain of alanine. Because of its phenyl group, phenylalanine is an aromatic compound that at room temperature exists as a white, powdery solid. L -phenylalanine (LPA) is an electrically-neutral amino acid and its enantiomer, D -phenylalanine (DPA), can be synthesized artificially. L -phenylalanine can also be converted into L -tyrosine, another one of the twenty protein-forming amino acids.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Phenylalanine (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Valine/Phenylalanine
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Valine/Phe DBS-sRto
- Display Name
- Valine/Phenylalanine (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- Valine/Phenylalanine, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18115
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53261-4 | Amino acid newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-DE | German (Germany) | Valin/Phenylalanin: |
| es-ES | Spanish (Spain) | Valina/Fenilalanina: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Valina / Fenilalanina: |
| fr-CA | French (Canada) | Valine/Phénylalanine: |
| fr-FR | French (France) | Valine/phénylalanine: |
| fr-BE | French (Belgium) | Valine/Phénylalanine: |
| it-IT | Italian (Italy) | Valina/Fenilalanina: Synonyms: Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | valine/fenylalanine: Synonyms: phenylalanine |
| pt-BR | Portuguese (Brazil) | Valina/Fenilalanina: Synonyms: Val; |
| ru-RU | Russian (Russian Federation) | Валин/Фенилаланин: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Valin/Fenilalanin: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 缬氨酸/苯丙氨酸: Synonyms: Alpha-氨基异戊酸; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
58092-8 Acylcarnitine newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Panel Name
- Short Name
- Acylcarnitine NBS pnl DBS
- Display Name
- Acylcarnitine NBS panel (DBS)
- Consumer Name Alpha Get Info
- Acylcarnitine NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 16130
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado neonatal de acilcarnitina: |
| es-MX | Spanish (Mexico) | Panel de pantalla para recién nacidos de acilcarnitina: |
| et-EE | Estonian (Estonia) | Atsüülkarnitiini sõeluuring vastsündinul: Synonyms: Juhuslik Veri |
| fr-FR | French (France) | Acylcarnitine dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening néonatal acylcarnitine: |
| it-IT | Italian (Italy) | Acilcarnitina, panel screening neonatale: Synonyms: Chimica Panel screening neonatale acilcarnitina Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acylcarnitine pasgeborene screening panel: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina triagem neonatal painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 酰基肉碱新生儿筛查组套: Synonyms: 全血斑点(滤纸); |
58088-6 Acylcarnitine newborn screen interpretation
Term Description
Acylcarnitine concentration measured in blood dot (Filter Paper) as part of newborn screen. It detects Fatty Acid Oxidation and Organic Acidemia Disorders.
Source: Regenstrief Institute
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Panel Name
- Short Name
- Acylcarnitine DBS-Imp
- Display Name
- Acylcarnitine Nar (DBS) [Interp]
- Consumer Name Alpha Get Info
- Interpretation of Acylcarnitine test result, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 17693
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acilcarnitina: |
| es-MX | Spanish (Mexico) | Acilcarnitina: |
| fr-CA | French (Canada) | Acylcarnitine: |
| fr-FR | French (France) | Acylcarnitine: |
| fr-BE | French (Belgium) | Acylcarnitine: |
| it-IT | Italian (Italy) | Acilcarnitina: Synonyms: Chimica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | acylcarnitine: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina: Synonyms: Acylcarni; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Описательный Точка во времени; |
| tr-TR | Turkish (Turkey) | Açilkarnitin: |
| zh-CN | Chinese (China) | 酰基肉碱: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
58093-6 Acylcarnitine newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Acylcarnitine newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Panel Name
- Short Name
- Acylcarnitine NBS comment
- Display Name
- Acylcarnitine newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Acylcarnitine newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 18419
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Acilcarnitina screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Comentario-discusión sobre el cribado neonatal de acilcarnitina: |
| fr-FR | French (France) | Acylcarnitine dépistage néonatal (commentaire/discussion): |
| fr-BE | French (Belgium) | Acylcarnitine Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Acilcarnitina, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale acilcarnitina Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | acylcarnitine screening van pasgeborene commentaar-discussie: |
| pt-BR | Portuguese (Brazil) | Acilcarnitina triagem neonatal comentários-discussão: Synonyms: Remarks; |
| ru-RU | Russian (Russian Federation) | Ацилкарнитин новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Açilkarnitin yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 酰基肉碱 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
57084-6 Fatty acid oxidation newborn screen panel
Term Description
Newborn screening dried blood spot analysis by tandem mass spectrometry (MS/MS) requires pre-processing the specimen with one of two alternative reagent methods referred to as derivatized and non-derivatized (or underivatized) methods. The methods are similar and nearly all analytes and ratios are identical with the limited number of exceptions noted in the description of the LOINC codes. Some labs choose to use the non-derivatized method because it may be faster or less expensive for their operations. There are no analytes which would be interpreted differently based on the method used to process the specimen so there is no need for different LOINC codes for the same compounds based on the reagents. In a few cases, a different LOINC code is used for the derivatized or non-derivatized tandem mass spectrometry (MS/MS) method because based on the reagents used in processing, different analytes are measured or different sets of analytes become isobaric, which means that they cannot be distinguished on the MS/MS because they have the same molecular weight after reagent processing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation newborn screen panel
- Property
- -
- Time
- Pt
- System
- Bld.dot
- Scale
- -
- Method
Additional Names
- Panel Name
- Short Name
- FA oxidation NB scn pnl DBS
- Display Name
- Fatty acid oxidation NBS panel (DBS)
- Consumer Name Alpha Get Info
- Fatty Acid Oxidation NBS Panel, Dried blood spot
Basic Attributes
- Class
- PANEL.CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
- Common Test Rank Get Info
- 17172
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Panel de cribado de la oxidación de ácidos grasos en el recién nacido: |
| es-MX | Spanish (Mexico) | Panel de pantalla recién nacido de oxidación de ácidos grasos: |
| et-EE | Estonian (Estonia) | Rasvhapete oksüdatsioonidefektis sõeluuring vastsündinul: Synonyms: Juhuslik Veri |
| fr-FR | French (France) | Oxydation des acides gras dépistage néonatal panel: |
| fr-BE | French (Belgium) | Panel screening nouveau-né oxidation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, panel di screening neonatale per ossidazione: Synonyms: Chimica Ossidazione degli acidi grassi Panel screening neonatale per ossidazione degli ac Punto nel tempo (episodio) Sangue Set di prescrizione chimica Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatie pasgeborene screening panel: |
| pl-PL | Polish (Poland) | Panel przesiewowy noworodka utleniania kwasów tłuszczowych: |
| pt-BR | Portuguese (Brazil) | Oxidação de ácidos graxos painel da tela de recém-nascido: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирные кислоты окисление новорождённый скрин панель: Synonyms: Кровь Кровь сухая капля Точка во времени; |
| zh-CN | Chinese (China) | 脂肪酸氧化新生儿筛查组套: Synonyms: FAO 全血斑点(滤纸); |
46736-5 Fatty acid oxidation defects newborn screen interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation defects
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Panel Name
- Short Name
- FOD DBS-Imp
- Display Name
- Fatty acid oxidation defects (DBS) [Interp]
- Consumer Name Alpha Get Info
- Fatty acid oxidation defects, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.19
- Last Updated
- Version 2.73
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 1323
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Defectos de la oxidación de ácidos grasos: |
| es-MX | Spanish (Mexico) | Defectos de oxidación de ácidos grasos: |
| fr-CA | French (Canada) | Défauts de l'oxydation des acides gras: |
| fr-FR | French (France) | Oxydation des acides gras déficit: |
| fr-BE | French (Belgium) | Défauts de l'oxydation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, difetti di ossidazione: Synonyms: Chimica Difetti di ossidazione degli acidi grassi Impressione/interpretazione di studio Ossidazione degli acidi grassi Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatiedefecten: |
| pt-BR | Portuguese (Brazil) | Defeitos de oxidação de ácidos graxos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирных кислот окисления дефекты: Synonyms: Впечатление/интерпретация исследования Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu kusurları: |
| zh-CN | Chinese (China) | 脂肪酸氧化过程缺陷: Synonyms: FAO FAODS; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57792-4 Fatty acid oxidation conditions suspected [Identifier] in DBS
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation conditions suspected
- Property
- Prid
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Panel Name
- Short Name
- FA oxidation conditions suspected DBS
- Display Name
- Fatty acid oxidation conditions suspected Nom (DBS)
- Consumer Name Alpha Get Info
- Fatty acid oxidation conditions suspected, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.61
- Change Reason
- Changed answer list from "Normative" to "Preferred" to fit the current LOINC model.
- Order vs. Observation
- Observation
Preferred Answer List LL838-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| None Copyright http://snomed.info/sct ID:260413007 None (qualifier value) | LA137-2 | ||
| Carnitine palmitoyltransferase type I deficiency Copyright http://snomed.info/sct ID:238001003 Carnitine palmitoyltransferase I deficiency (disorder) | LA12485-1 | ||
| Carnitine uptake deficiency/carnitine transport defect Copyright http://snomed.info/sct ID:21764004 Renal carnitine transport defect (disorder) | LA12487-7 | ||
| CPT-II or CACT | LA12573-4 | ||
| LCHAD or TFP | LA12574-2 | ||
| Medium-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:128596003 Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder) | LA12509-8 | ||
| MCAD or SCAD or GA-2(MADD) | LA12575-9 | ||
| SCAD or EMA or IBG or GA-2 (MADD) | LA12576-7 | ||
| Very long-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237997005 Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) | LA12531-2 | ||
| 2,4-Dienoyl-CoA reductase deficiency Copyright http://snomed.info/sct ID:444944006 Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) | LA12489-3 | ||
| Carnitine acylcarnitine translocase deficiency Copyright http://snomed.info/sct ID:238003000 Carnitine acylcarnitine translocase deficiency (disorder) | LA12475-2 | ||
| Carnitine palmitoyltransferase type II deficiency Copyright http://snomed.info/sct ID:238002005 Carnitine palmitoyltransferase II deficiency (disorder) | LA12486-9 | ||
| Glutaric acidemia type II Copyright http://snomed.info/sct ID:22886006 Glutaric aciduria, type 2 (disorder) | LA12495-0 | ||
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:307127004 Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder) | LA12507-2 | ||
| Carnitine uptake deficiency/carnitine transport defect (maternal) Copyright http://snomed.info/sct ID:206001006 Fetal or neonatal effect of maternal problem unrelated to pregnancy (disorder) | LA12488-5 | ||
| Medium-chain ketoacyl-CoA thiolase deficiency Copyright http://snomed.info/sct ID:124265004 Deficiency of acetyl-coenzyme A acyltransferase (disorder) | LA12511-4 | ||
| Short-chain acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:124166007 Deficiency of butyryl-CoA dehydrogenase (disorder) | SCAD | LA12524-7 | |
| Short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency Copyright http://snomed.info/sct ID:237998000 Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) | LA12525-4 | ||
| Trifunctional protein deficiency Copyright http://snomed.info/sct ID:237999008 Mitochondrial trifunctional protein deficiency (disorder) | LA12527-0 | ||
| CUD or CUD (mat) or CPT-Ia | LA12916-5 | ||
| GA-1 or GA-2 | LA12917-3 | ||
| X-linked adrenoleukodystrophy Copyright http://snomed.info/sct ID:65389002 Adrenoleukodystrophy (disorder) | LA25796-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Condiciones de oxidación de ácidos grasos: |
| es-MX | Spanish (Mexico) | Sospecha de condiciones de oxidación de ácidos grasos: |
| fr-FR | French (France) | Oxydation des acides gras conditions suspectées: |
| fr-BE | French (Belgium) | Conditions suspectes d'oxydation des acides gras: |
| it-IT | Italian (Italy) | Acidi grassi, condizioni sospette di ossidazione: Synonyms: Chimica Condizioni sospette di ossidazione degli acidi gra Ossidazione degli acidi grassi Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatie omstandigheden vermoed: |
| pl-PL | Polish (Poland) | Badanie statusu utlenienie kwasów tłuszczowych: |
| pt-BR | Portuguese (Brazil) | Condições suspeitas de oxidação de ácidos graxos: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирная кислота окисление состояние заподозрены: Synonyms: Кровь Кровь сухая капля Номинальный; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu koşulları şüphelenilen: |
| zh-CN | Chinese (China) | 疑似脂肪酸氧化障碍: Synonyms: FAO 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
57709-8 Fatty acid oxidation defects newborn screening comment-discussion
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Fatty acid oxidation defects newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Panel Name
- Short Name
- FOD NBS comment
- Display Name
- Fatty acid oxidation defects newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Fatty acid oxidation defects newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Defectos de la oxidación de ácidos grasos screnning de recién nacidos comentario-discusión: |
| es-MX | Spanish (Mexico) | Defectos de oxidación de ácidos grasos cribado neonatal comentario-discusión: |
| fr-FR | French (France) | Oxydation des acides gras déficit dépistage néonatal: |
| fr-BE | French (Belgium) | Défauts de l'oxydation des acides gras Commentaires.screening néonatal.discussion: |
| it-IT | Italian (Italy) | Acidi grassi, difetti di ossidazione, screening neonatale, commenti-discussione: Synonyms: Chimica Commento/discussione di screening neonatale per difetti di ossidazione degli acidi grassi Difetti di ossidazione degli acidi grassi Ossidazione degli acidi grassi Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
| nl-NL | Dutch (Netherlands) | vetzuuroxidatiedefecten screening van pasgeborene commentaar-discussie: |
| pl-PL | Polish (Poland) | Zaburzenia utleniania kwasów tłuszczowych komentarz-dyskusja nad badaniami przesiewowymi noworodka: |
| pt-BR | Portuguese (Brazil) | Defeitos de oxidação de ácidos graxos na triagem neonatal comentários-discussão: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Жирных кислот окисления дефекты новорожденный скрининг комментарий-дискуссия: Synonyms: Кровь Кровь сухая капля Описательный Текст Точка во времени; |
| tr-TR | Turkish (Turkey) | Yağ asidi oksidasyonu kusurları yenidoğan tarama öneri-tartışma: |
| zh-CN | Chinese (China) | 脂肪酸氧化过程缺陷 新生儿筛查注释-讨论: Synonyms: Asympt FAO FAODS; |
38481-8 Carnitine free (C0) [Moles/volume] in DBS
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Carnitine Free DBS-sCnc
- Display Name
- C0 (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- C0, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.14
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19326
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 79284-6 | Carnitine biosynthesis intermediates panel - DBS |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0): |
| es-AR | Spanish (Argentina) | carnitina.libre: |
| et-EE | Estonian (Estonia) | Karnitiin.vaba (C0): Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
| fr-CA | French (Canada) | Carnitine.libre (C0): |
| fr-FR | French (France) | Carnitine libre (C0): |
| fr-BE | French (Belgium) | Carnitine.libre (C0): |
| it-IT | Italian (Italy) | Carnitina.libera (C0): Synonyms: Carnitina libera (C0) Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
| ko-KR | Korean (Korea, Republic Of) | 유리카르니틴: |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0): Synonyms: Substance concentration; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0): Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0): |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0): Synonyms: 克分子浓度; |
Example Units
| Unit | Source |
|---|---|
| umol/L | Example UCUM Units |
| mcmol/L | REGENSTRIEF |
53233-3 Carnitine free (C0)/Palmitoylcarnitine (C16) [Molar ratio] in DBS
Term Description
Carnitine.free/Palmitoylcarnitine is a secondary marker for Carnitine acylcarnitine translocase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70162-0 Palmitoylcarnitine (C16)
Palmitoylcarnitine is a primary marker for Very long-chain acyl-CoA dehydrogenase deficiency, Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Palmitoylcarnitine (C16)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Carnitine Free/C16 DBS-sRto
- Display Name
- C0/Palmitoylcarnitine (C16) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Palmitoylcarnitine (C16), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Palmitoilcarnitina (C16): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitine.libre (C0) / Palmitoylcarnitine (C16): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Palmitoylcarnitine (C16): |
| fr-FR | French (France) | Carnitine libre (C0)/palmitoylcarnitine (C16): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Palmitoylcarnitine (C16): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Palmitoilcarnitina (C16): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/palmitoylcarnitine (C16): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Palmitoilcarnitina (C16): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Пальмитоилкарнитин (C16): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Palmitoilkarnitin (C16): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/棕榈酰肉碱 (C16): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53234-1 Carnitine free (C0)/Stearoylcarnitine (C18) [Molar ratio] in DBS
Term Description
Carnitine.free/Stearoylcarnitine is a secondary marker for Carnitine acylcarnitine translocase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
LP70197-6 Stearoylcarnitine (C18)
Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency, Carnitine acylcarnitine translocase deficiency, and Carnitine palmitoyltransferase II deficiency. Secondary marker for Long-chain L-3-Hydroxy dehydrogenase deficiency, Trifunctional protein deficiency, and Carnitine uptake defect.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Stearoylcarnitine (C18)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Carnitine Free/C18 DBS-sRto
- Display Name
- C0/Stearoylcarnitine (C18) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Stearoylcarnitine (C18), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Estearoilcarnitina (C18): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitine.libre (C0) / Estearoilcarnitina (C18): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Stéaroylcarnitine (C18): |
| fr-FR | French (France) | Carnitine libre (C0)/stéaroylcarnitine(C18): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Stéaroylcarnitine (C18): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Stearoilcarnitina (C18): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/stearoylcarnitine (C18): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Estearoilcarnitina (C18): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Стеароилкарнитин (C18): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Stearoilkarnitin (C18): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/硬脂酰肉碱 (C18): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53235-8 Carnitine free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) [Molar ratio] in DBS
Term Description
Carnitine.free/Palmityolcarnitine+Stearoylcarnitine is a primary marker for Carnitine palmitoyltransferase I deficiency. Secondary marker for Carnitine acylcarnitine translocase deficiency and Carnitine palmitoyltransferase II deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP18431-4 Carnitine.free (C0)
Carnitine.free is a primary marker for carnitine uptake defect, propionic acidemia, maternal carnitine uptake defect, carnitine palmitoyltransferase I deficiency and primary lactic acidemia (various types). It is also a secondary marker for maternal glutaric acidemia type I.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18)
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- Carnitine Free/C16+C18 DBS-sRto
- Display Name
- C0/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18) (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18), Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 19307
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina libre/Palmitoilcarnitina (C16)+Estearoilcarnitina (C18): Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0) / Palmitoilcarnitina (C16) + Estearoilcarnitina (C18): |
| fr-CA | French (Canada) | Carnitine.libre (C0)/Palmitoylcarnitine (C16)+Stéaroylcarnitine (C18): |
| fr-FR | French (France) | Carnitine libre (C0)/palmitoylcarnitine (C16)+stéaroylcarnitine(C18): |
| fr-BE | French (Belgium) | Carnitine.libre (C0)/Palmitoylcarnitine (C16)+Stearoylcarnitine (C18): |
| it-IT | Italian (Italy) | Carnitina.libera (C0)/Palmitoilcarnitina (C16)+Stearoilcarnitina (C18): Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0)/palmitoylcarnitine (C16) + stearoylcarnitine (C18): |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)/Palmitoilcarnitina (C16)+Estearoilcarnitina (C18): Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный(С0)/Пальмитоилкарнитин (C16)+Стеароилкарнитин (C18): Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)/Palmitoilkarnitin (C16)+Stearoilkarnitin (C18): Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)/棕榈酰肉碱 (C16)+硬脂酰肉碱 (C18): Synonyms: 全血斑点(滤纸); |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
53236-6 Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline [Molar ratio] in DBS
Term Description
Carnitine.free+Acetylcarnitine+Propionylcarnitine+Palmitoylcarnitine+Oleoylcarnitine+Stearoylcarnitine/Citrulline is a primary marker for Carnitine uptake defect, Maternal carnitine uptake defect. Secondary marker for Maternal glutaric acidemia type I and Maternal 3-Methylcrotonyl-CoA carboxylase deficiency.
Source: Regenstrief LOINC
Part Descriptions
LP70358-4 Citrulline
Citrulline is an alpha amino acid, produced from ornithine and carbamoyl phosphate during the urea cycle. Its name is derived from citrullus, the Latin word for watermelon, from which it was first isolated.
Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details.
Source: Wikipedia, Citrulline (Wikipedia)
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18:1)+Stearoylcarnitine (C18)/Citrulline
- Property
- SRto
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Panel Name
- Short Name
- C0+C2+C3+C16+C18/Cit DBS-sRto
- Display Name
- C0+C2+C3+C16+C18:1+C18/Citrulline (DBS) [Molar ratio]
- Consumer Name Alpha Get Info
- C0+C2+C3+C16+C18:1+C18/Citrulline, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 58092-8 | Acylcarnitine newborn screen panel |
| 53262-2 | Carnitine newborn screen panel |
| 104191-2 | Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Carnitina.libre (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Carnitina libre (C0) + Acetilcarnitina (C2) + Propionilcarnitina (C3) + Palmitoilcarnitina (C16) + Oleoilcarnitina (C18: |
| fr-CA | French (Canada) | Carnitine.libre (C0)+Acylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oléoylcarnitine (C18: |
| fr-FR | French (France) | Carnitine libre(C0)+acétylcarnitine(C2)+propionylcarnitine(C3)+palmitoylcarnitine(C16)+oléoylcarnitine(C18: |
| fr-BE | French (Belgium) | Carnitine.free (C0)+Acetylcarnitine (C2)+Propionylcarnitine (C3)+Palmitoylcarnitine (C16)+Oleoylcarnitine (C18: |
| it-IT | Italian (Italy) | Carnitina.libera (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: Carnitina libera (C0) Chimica Punto nel tempo (episodio) Rapporto di sostanza Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | carnitine.vrij (C0) + acetylcarnitine (C2) + propionylcarnitine (C3) + palmitoylcarnitine (C16) + oleoylcarnitine (C18: |
| pt-BR | Portuguese (Brazil) | Carnitina.livre (C0)+Acetilcarnitina (C2)+Propionilcarnitina (C3)+Palmitoilcarnitina (C16)+Oleoilcarnitina (C18: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Карнитин.свободный (C0)+Ацетилкарнитин (C2)+Пропионилкарнитин (C3)+Пальмитоилкарнитин (C16)+Олеоилкарнитин (C18: Synonyms: Количественный Кровь Кровь сухая капля Мольная доля; |
| tr-TR | Turkish (Turkey) | Karnitin.serb (C0)+Asetilkarnitin (C2)+Propiyonilkarnitin (C3)+Palmitoilkarnitin (C16)+Oleoilkarnitin (C18: Synonyms: SubsOranı |
| zh-CN | Chinese (China) | 肉碱.游离型 (C0)+酰基肉碱 (C2)+丙酰肉碱 (C3)+棕榈酰肉碱 (C16)+油酰肉碱 (C18: Synonyms: Ⅰ Citr I 丙酰肉碱（肉毒碱、 |