94232-6
FLCN gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Active
Term Description
Full gene sequencing and deletion/duplication analysis of the FLCN (folliculin) gene is performed identify a causative mutation or large deletion/duplication associated with Birt-Hogg-Dube syndrome. Testing is used for clinical management, risk assessment for related clinical symptoms, and genetic counseling for family members.[GHR gene: FLCN]
Source: Regenstrief LOINC
Part Description
LP97932-5 FLCN gene
The FLCN gene (folliculin) [HGNC Gene ID:27310] is located on chromosome 17p11.2. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:201163]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FLCN gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- FLCN gene Del+Dup + Full Mut Anl Bld/T
- Display Name
- FLCN gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- FLCN gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen FLCN estudio delecion+duplicacion y estudio mutacional completo: |
es-MX | Spanish (Mexico) | Eliminación del gen FLCN + duplicación y análisis de mutación completo: |
fr-FR | French (France) | FLCN gène délétion+duplication et analyse complète des mutations: |
it-IT | Italian (Italy) | FLCN, gene Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione Gene FLCN Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | FLCN-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: FLCN gen molgen |
tr-TR | Turkish (Turkey) | FLCN geni delesyon+duplikasyon ve tam mutasyon analizi: Synonyms: çiftleme |
zh-CN | Chinese (China) | FLCN 基因 缺失+重复与全面的突变分析: Synonyms: BHD; |
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