94573-3
Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS
Active
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
Fully-Specified Name
- Component
- Tyrosine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- 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-FR | French (France) | Tyrosine: |
fr-BE | French (Belgium) | Tyrosine: |
fr-CA | French (Canada) | 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 |
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)
Fully-Specified Name
- Component
- Methionine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- 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-FR | French (France) | Méthionine: |
fr-BE | French (Belgium) | Méthionine: |
fr-CA | French (Canada) | 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 |
53231-7 Succinylacetone [Moles/volume] in DBS
Part Descriptions
LP15872-2 Succinylacetone
Succinylacetone is a primary marker for Tyrosinemia type I.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Succinylacetone
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- 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-FR | French (France) | Succinylacétone: |
fr-CA | French (Canada) | 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 |
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)
Fully-Specified Name
- Component
- Phenylalanine
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- 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-BE | French (Belgium) | Phénylalanine: |
fr-FR | French (France) | Phénylalanine: |
fr-CA | French (Canada) | 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 |
85098-2 Nitisinone [Moles/volume] in DBS by LC/MS/MS
Term Description
Dried blood spot (DBS) specimens have been used for therapeutic drug monitoring (TDM) across several classes of drugs including antimicrobials, anticonvulsants and immunosuppressants. DBS specimens are useful for TDM in infants and children due to the small sample volume required. DBS specimens are also useful for outpatient TDM in adults who have been trained to collect their own DBS because most analytes are relatively stable in DBS and the DBS card does not require specialized transportation. PMID: 25204403
Source: Regenstrief LOINC
Part Descriptions
LP231897-2 Nitisinone
Nitisinone (brand name Orfadin) is a hydroxyphenyl-pyruvate dioxygenase inhibitor indicated as an adjunct to dietary restriction of tyrosine and phenylalanine in the treatment of hereditary tyrosinemia type 1 (HT-1). Patients with undiagnosed HT-1 usually present with liver failure. Nitisinone is used to prevent liver failure and treat those with those with chronic liver disease. Nitisinone is well tolerated and has few adverse effects. PMID: 16706549
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Nitisinone
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
- LC/MS/MS
Additional Names
- Short Name
- NTBC DBS LC/MS/MS-sCnc
- Display Name
- Nitisinone LC/MS/MS (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- Nitisinone, Dried blood spot
Basic Attributes
- Class
- DRUG/TOX
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
94573-3 | Tyrosinemia newborn screening follow-up and therapeutic monitoring panel - DBS |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | Nitisinona: |
es-ES | Spanish (Spain) | Nitisinona: Synonyms: Cuantitativo |
fr-FR | French (France) | Nitisinone: |
it-IT | Italian (Italy) | Nitisinone: Synonyms: Concentrazione di Sostanza Livelli farmacologici e tossicologia NTBC Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | nitisinon: |
zh-CN | Chinese (China) | 尼替西农: Synonyms: C14H10F3NO5; |
Example Units
Unit | Source |
---|---|
umol/L | Example UCUM Units |