43277-3
GDAP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP36428-8 GDAP1 gene
The GDAP1 gene (ganglioside induced differentiation associated protein 1) [HGNC Gene ID:15968] is located on chromosome 8q21.11. This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012] [NCBI Gene ID:54332]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GDAP1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- GDAP1 gene Mut Anl Bld/T
- Display Name
- GDAP1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- GDAP1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.17
- Last Updated
- Version 2.63
- 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
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen GDAP1 Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen GDAP1: |
fr-FR | French (France) | GDAP1 gène mutation cible trouvée: |
it-IT | Italian (Italy) | GDAP1, gene analisi di mutazione mirata: Synonyms: Gene GDAP1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | GDAP1-gen doelgerichte mutatie-analyse: Synonyms: GDAP1 gen molgen targeted |
pt-BR | Portuguese (Brazil) | GDAP1 análise de mutação genética: Synonyms: CMT2G; |
ru-RU | Russian (Russian Federation) | GDAP1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | GDAP1 geni Mutasyon analizi: |
zh-CN | Chinese (China) | GDAP1 基因 突变分析: Synonyms: CMT2G; |
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