30005-3
CYP21A2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
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 targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CYP21A2 Mut Anl Bld/T
- Display Name
- CYP21A2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- CYP21A2 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.04
- 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.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 6233
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | análisis de mutación del gen CYP21A2: |
| es-ES | Spanish (Spain) | Gen CYP21A2 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CYP21A2: |
| fr-FR | French (France) | CYP21A2 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CYP21A2, gene analisi di mutazione mirata: Synonyms: Gene CYP21A2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | CYP21A2 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | CYP21A2-gen doelgerichte mutatie-analyse: Synonyms: CYP21A2 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CYP21A2 análise de mutação genética: Synonyms: Congenital adrenal hyperplasia; |
| ru-RU | Russian (Russian Federation) | CYP21A2 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | CYP21A2 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CYP21A2 基因 突变分析: Synonyms: 21 羟化酶缺乏; |
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=30005-3
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