Version 2.80

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
Amnio fld
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
CYP21A2 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
Short Name
CYP21A2 Mut Anl Amn
Display Name
CYP21A2 gene targeted mutation analysis Molgen Nom (Amn fld)
Consumer Name Alpha Get Info
CYP21A2 gene targeted mutation analysis, Amniotic fluid

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.68 (MIN)
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

Tag Language Translation
el-GR Greek (Greece) Γονίδιο CYP21A2 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αμνιακό υγρό:Nom:Μοριακή γενετική
Synonyms: Prid Γονίδιο Γονίδιο CYP21A2
es-ES Spanish (Spain) Gen CYP21A2 Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen CYP21A2:Presencia o identidad:Punto temporal:Líquido amniótico:Nominal:Genética molecular
fr-FR French (France) CYP21A2 gène mutation cible trouvée:Identification:Ponctuel:Liquide amniotique:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CYP21A2, gene analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
Synonyms: Gene CYP21A2 Genetica molecolare Liquido amniotico Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) CYP21A2-gen doelgerichte mutatie-analyse:identificator:moment:vruchtwater:nominaal:moleculair genetisch onderzoek
Synonyms: CYP21A2 gen molgen targeted
pt-BR Portuguese (Brazil) CYP21A2 análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecular
Synonyms: Congenital adrenal hyperplasia; CA21H; CYP21; CYP21B; P450c21B; 21 Hydroxylase Deficiency; Identity or presence; Point in time; Random; Amn; Amniotic fluid; Amn fl; Amniotic flu; AF; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) CYP21A2 ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГен
Synonyms: Амниотическая жидкость Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) CYP21A2 geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen
Synonyms: Amniyon mayii
zh-CN Chinese (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
Synonyms: 21 羟化酶缺乏;21 羟化酶缺乏症;21 羟化酶缺陷;21 羟化酶缺陷症;CA21H;CYP21;CYP21B;P450c21B;先天性肾上腺增生;先天性肾上腺增生症;先天性肾上腺皮质增生;先天性肾上腺皮质增生症 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 羊膜水;胎水 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

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