41106-6
FXN gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Descriptions
LP33147-7 FXN gene
The GAA trinucleotide repeat expansion in the FXN gene causes Friedreich ataxia, a neuromuscular condition with symptoms of ataxia, impaired speech, spasticity, and gradual loss of strength and sensation in the arms and legs. Most individuals with Friedreich ataxia have the expanded GAA trinucleotide repeat in both copies of the FXN gene. The GAA segment is repeated 66 to more than 1,000 times. About 2 percent of people with this condition have an expanded GAA trinucleotide repeat in one copy of the FXN gene and another kind of mutation in the other copy of the gene. Mutations in the FXN gene disrupt production of frataxin, greatly reducing the amount of this protein in cells.
Source: Genetic Home Reference, National Library of Medicine, FXN gene
LP33147-7 FXN gene
The FXN gene (frataxin) [HGNC Gene ID:3951] is located on chromosome 9q21.11. This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] [NCBI Gene ID:2395]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FXN gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- FXN gene Mut Anl Bld/T
- Display Name
- FXN gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- FXN 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
- Changed 'FRDA' in the Component to 'FXN', the current HGNC approved gene symbol.; 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 FXN Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FXN: |
| fr-CA | French (Canada) | Gène FXN ciblé, analyse de la mutation: |
| fr-FR | French (France) | FXN gène mutation cible trouvée: |
| it-IT | Italian (Italy) | FRDA, gene analisi di mutazione mirata: Synonyms: Gene FRDA Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | FRDA 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | FRDA-gen doelgerichte mutatie-analyse: Synonyms: FRDA gen molgen targeted |
| pt-BR | Portuguese (Brazil) | FRDA análise de mutação genética: Synonyms: X25; |
| ru-RU | Russian (Russian Federation) | FRDA ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | FRDA geni Mutasyon analizi: |
| zh-CN | Chinese (China) | FRDA 基因 突变分析: Synonyms: FARR; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=41106-6
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