LOINC
Version 2.66

48781-9CYP21A2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method NominalActive

Component
CYP21A2 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Amnio fld
Scale
Nom
Method
Molgen

Additional Names

Short Name
CYP21A2 gene Mut Anl Amn
Display Name Beta
CYP21A2 gene targeted mutation analysis Molgen Nom (Amn fld)
Consumer Name Alpha
CYP21A2 gene Variant Analysis, Amniotic Fluid

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] Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: National Center for Biotechnology Information (NCBI) Gene, Link to OMIM

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.63
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

Member of these Panels

LOINC Long Common Name
54037-7 HEDIS 2009 panel
57820-3 HEDIS 2010 panel
60442-1 HEDIS 2011 panel
67767-4 HEDIS 2012 panel
72199-3 HEDIS 2013 panel
74234-6 HEDIS 2014 Value Sets

Language Variants Get Info

zh-CNChinese (China)
CYP21A2 基因 突变分析:存在与否或特征标识:时间点:羊水:名义型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
CYP21A2-gen mutatie-analyse:identificator:moment:vruchtwater:nominaal:molgen
fr-FRFrench (France)
CYP21A2 gene targeted mutation analysis:Prid:Pt:Amnio fld:Nom:Molgen
it-ITItalian (Italy)
CYP21A2, gene , analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
pt-BRPortuguese (Brazil)
CYP21A2 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecular
ru-RURussian (Russian Federation)
CYP21A2 ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГен
es-ESSpanish (Spain)
Gen CYP21A2 Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecular
tr-TRTurkish (Turkey)
CYP21A2 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=48781-9