41119-9
APTX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP35575-7 APTX gene
The APTX gene (aprataxin) [HGNC Gene ID:15984] is located on chromosome 9p13.3. This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010] [NCBI Gene ID:54840]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- APTX gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- APTX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- APTX gene Mut Anl Bld/T
- Display Name
- APTX gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- APTX gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- 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 APTX Analisis de mutaciones: |
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen APTX: |
fr-FR | French (France) | APTX gène mutation cible trouvée: |
it-IT | Italian (Italy) | APTX, gene analisi di mutazione mirata: Synonyms: Gene APTX Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | APTX 유전자 돌연변이 분석: |
nl-NL | Dutch (Netherlands) | APTX-gen doelgerichte mutatie-analyse: Synonyms: APTX gen molgen targeted |
pt-BR | Portuguese (Brazil) | APTX análise de mutação genética: Synonyms: AOA; |
ru-RU | Russian (Russian Federation) | APTX ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | APTX geni Mutasyon analizi: |
zh-CN | Chinese (China) | APTX 基因 突变分析: Synonyms: AOA; |
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=41119-9
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