94197-1
CYP21A2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Active
Term Description
Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the CYP21A2 gene. Testing is performed for carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH).
Source: Regenstrief LOINC
Part Description
LP28553-3 CYP21A2 gene
The CYP21A2 gene (cytochrome P450, family 21, subfamily A, polypeptide 2) [HGNC Gene ID:2600] is located on chromosome 6p21.3. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1589]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CYP21A2 gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- CYP21A2 Del+Dup + Full Mut Anl Bld/T
- Display Name
- CYP21A2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP21A2 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 CYP21A2 estudio delecion+duplicacion y estudio mutacional completo: |
es-MX | Spanish (Mexico) | Deleción del gen CYP21A2 + análisis de duplicación y mutación completa: |
fr-FR | French (France) | CYP21A2 gène délétion+duplication et analyse complète des mutations: |
it-IT | Italian (Italy) | CYP21A2, gene Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione Gene CYP21A2 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | CYP21A2-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: CYP21A2 gen molgen |
tr-TR | Turkish (Turkey) | CYP21A2 geni delesyon+duplikasyon ve tam mutasyon analizi: Synonyms: çiftleme |
zh-CN | Chinese (China) | CYP21A2 基因 缺失+重复与全面的突变分析: Synonyms: 21 羟化酶缺乏; |
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- CodeSystem lookup
- https:
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LOINC Copyright
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