111825-6
Metachromatic Leukodystrophy newborn screening panel
Active
111823-1 Metachromatic leukodystrophy comment [Text] in DBS Narrative
Fully-Specified Name
- Component
- Metachromatic leukodystrophy comment
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.82
- Last Updated
- Version 2.82 (ADD)
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | Leucodistrofia metacromatica, commento: Synonyms: Chimica Commento di leucodistrofia metacromatica Punto nel tempo (episodio) Sangue Spot sangue secco Testo |
111822-3 Metachromatic leukodystrophy comment newborn screen interpretation
Fully-Specified Name
- Component
- Metachromatic leukodystrophy comment
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.82
- Last Updated
- Version 2.82 (ADD)
- Order vs. Observation
- Observation
Example Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| One or more tests pending | LA16204-2 | ||
| Screen Negative | LA34518-3 | ||
| Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) | LA9663-1 | ||
| Not tested | LA13538-6 | ||
| In range | LA18592-8 | ||
| 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 second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 62300-9 | Lysosomal disorders newborn screening panel |
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | Leucodistrofia metacromatica, commento: Synonyms: Chimica Commento di leucodistrofia metacromatica Impressione/interpretazione di studio Punto nel tempo (episodio) Sangue Spot sangue secco |
Third Party Copyright
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111824-9 Cerebroside sulfatase [Enzymatic activity/volume] in DBS
Part Descriptions
LP14023-3 Cerebroside sulfatase
Arylsulfatase A (or cerebroside-sulfatase) is an enzyme which breaks down cerebroside 3-sulfate. A deficiency is associated with metachromatic leukodystrophy.
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, Cerebroside sulfatase (Wikipedia)
LP14023-3 Cerebroside sulfatase
Cerebroside sulfatase measures enzyme activity released per mg protein per hr. Used to detext metachromatic leukodystrophy and its carrier state. Usually seen as part of a battery of lysomal enzymes.
Source: Regenstrief Institute
Fully-Specified Name
- Component
- Cerebroside sulfatase
- Property
- CCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.82
- Last Updated
- Version 2.82 (ADD)
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Σουλφατάση εγκεφαλοζίτη: Synonyms: Bld.dot CCnc CHEM Pt Qn Αίμα Σουλφατάση εγκεφαλοζίτη |
| es-ES | Spanish (Spain) | Cerebrósido sulfatasa: Synonyms: Cuantitativo |
| et-EE | Estonian (Estonia) | Tserebrosiidi sulfataas: Synonyms: Juhuslik Kvantitatiivne Veri |
| fr-FR | French (France) | Arylsulfatase A: |
| fr-BE | French (Belgium) | Cérébroside-sulfatase: |
| fr-CA | French (Canada) | Cérébroside-sulfatase: |
| it-IT | Italian (Italy) | Cerebroside solfatasi: Synonyms: Chimica Concentrazione Catalitica Punto nel tempo (episodio) Sangue Spot sangue secco |
| nl-NL | Dutch (Netherlands) | cerebrosidesulfatase: |
| ru-RU | Russian (Russian Federation) | Цереброзид сульфатаза: Synonyms: Каталитическая концентрация Количественный Кровь Кровь сухая капля Точка во времени; |
| tr-TR | Turkish (Turkey) | Serebrozid sülfataz: |
| zh-CN | Chinese (China) | 脑苷脂硫酸酯酶: Synonyms: 催化浓度(单位体积); |
Example Units
| Unit | Source |
|---|---|
| U/L | Example UCUM Units |
112305-8 C16:0 sulfatide [Mass/volume] in DBS
Fully-Specified Name
- Component
- C16:0 sulfatide
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.82
- Last Updated
- Version 2.82 (ADD)
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | C16: Synonyms: Concentrazione di Massa Patologia molecolare Punto nel tempo (episodio) Sangue Spot sangue secco |
Example Units
| Unit | Source |
|---|---|
| ng/mL | Example UCUM Units |
112304-1 C16:1-OH sulfatide [Mass/volume] in DBS
Fully-Specified Name
- Component
- C16:1-OH sulfatide
- Property
- MCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.82
- Last Updated
- Version 2.82 (ADD)
- Order vs. Observation
- Both
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 54089-8 | Newborn screening panel American Health Information Community (AHIC) |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | C16: Synonyms: Concentrazione di Massa Patologia molecolare Punto nel tempo (episodio) Sangue Spot sangue secco |
Example Units
| Unit | Source |
|---|---|
| ng/mL | Example UCUM Units |