42318-6
GALT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Descriptions
LP36032-8 GALT gene
The GALT gene is located on chromosome 9p13.3 and encodes galactose-1-phosphate uridyl transferase, an enzyme that plays a key role in galactose metabolism. GALT mutations are associated with decreased or absent enzymatic activity, which results in the disease galactosemia. Three common mutations are p.Gln188Arg, p.Lys285Asn, and p.Ser135Leu. Classic galactosemia presents in the newborn period with vomiting, jaundice, hypoglycemia, hepatosplenomegaly, hypotonia and sepsis. If not treated immediately by removing lactose from the diet, the disease can be associated with severe disability or death. [OMIM: 230400]
Source: Regenstrief LOINC, OMIM: 230400
LP36032-8 GALT gene
The GALT gene (galactose-1-phosphate uridylyltransferase) [HGNC Gene ID:4135] is located on chromosome 9p13. Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] [NCBI Gene ID:2592]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GALT gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- GALT gene Mut Anl Bld/T
- Display Name
- GALT gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- GALT gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 7358
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen GALT Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen GALT: |
| fr-FR | French (France) | GALT gène mutation cible trouvée: |
| it-IT | Italian (Italy) | GALT, gene analisi di mutazione mirata: Synonyms: Gene GALT Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | GALT 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | GALT-gen doelgerichte mutatie-analyse: Synonyms: GALT gen molgen targeted |
| pt-BR | Portuguese (Brazil) | GALT análise de mutação genética: Synonyms: Galactose-1-phosphate uridylyltransferase gene; |
| ru-RU | Russian (Russian Federation) | GALT ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | GALT geni Mutasyon analizi: |
| zh-CN | Chinese (China) | GALT 基因 突变分析: Synonyms: 全血或组织; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=42318-6
LOINC Copyright
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