21762-0
FXN gene GAA repeats [Presence] in Blood or Tissue by Molecular genetics method
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Part Description
LP19791-0 FXN gene.GAA repeats
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
Fully-Specified Name
- Component
- FXN gene.GAA repeats
- Property
- PrThr
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Long Common Name
- FXN gene GAA repeats [Presence] in Blood or Tissue by Molecular genetics method
- Short Name
- FXN gene GAA Rpt Bld/T Ql
- Display Name
- FXN gene GAA repeats Molgen Ql (Bld/Tiss)
- Consumer Name Alpha Get Info
- FXN gene GAA Repeats, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.NUCREPEAT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.73
- Change Reason
- Changed 'FRDA' in the Component to 'FXN', the current HGNC approved gene symbol. June 2015: Changed Property from 'Pr' (Presence) to 'Threshold' since the results (e.g. positive, intermediate, negative) is based on a cut-off for the number of nucleotide repeats. Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17542
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | gen FRDA.repeticiones GAA: |
| es-ES | Spanish (Spain) | Repeticiones GAA del gen FXN: |
| es-MX | Spanish (Mexico) | Gene FXN Repite GAA: |
| fr-FR | French (France) | FXN gène répétitions GAA: |
| it-IT | Italian (Italy) | FRDA, gene.GAA ripetizioni: Synonyms: Gene FRDA Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni GAA del gene FRDA Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | FRDA 유전자.GAA 반복: |
| nl-NL | Dutch (Netherlands) | FRDA-gen.GAA repeats: Synonyms: FRDA gen FRDA gen.GAA repeats molgen |
| pt-BR | Portuguese (Brazil) | FRDA gene.GAA repetições: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | FRDA ген.GAA повторы: Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | FRDA geni.GAA tekrarları: Synonyms: Mevcut |
| zh-CN | Chinese (China) | FRDA 基因.GAA 重复序列: 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=21762-0
LOINC Copyright
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