36913-2
FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP33555-1 FMR1 gene
The FMR1 gene (fragile X mental retardation 1) [HGNC Gene ID:3775] is located on chromosome Xq27.3. The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] [NCBI Gene ID:2332]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FMR1 gene targeted mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- FMR1 gene Mut Anl Bld/T
- Display Name
- FMR1 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- FMR1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- 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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 5151
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | gen FMR1.repeticiones CGG: |
| es-ES | Spanish (Spain) | Gen FMR1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FMR1: |
| fr-CA | French (Canada) | Gène FMR1 ciblé, analyse de la mutation: |
| fr-FR | French (France) | FMR1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | FMR1, gene analisi di mutazione mirata: Synonyms: Gene FMR1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | FMR1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | FMR1-gen doelgerichte mutatie-analyse: Synonyms: FMR1 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | FMR1 análise de mutação genética: Synonyms: Fragile X syndrome; |
| ru-RU | Russian (Russian Federation) | FMR1 ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | FMR1 geni Mutasyon analizi: |
| uk-UA | Ukrainian (Ukraine) | FMR1 ген аналіз цільової мутації: Synonyms: Blood; |
| zh-CN | Chinese (China) | FMR1 基因 突变分析: Synonyms: 临床文档型; |
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=36913-2
LOINC Copyright
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