Version 2.78

Fully-Specified Name

Component
HADHA gene.c.1528G>C
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
Molgen

Additional Names

Long Common Name
HADHA gene c.1528G>C [Identifier] in Blood or Tissue by Molecular genetics method Narrative
Short Name
HADHA c.1528G>C Bld/T
Display Name
HADHA gene c.1528G>C Molgen Nar (Bld/Tiss)
Consumer Name Alpha Get Info
HADHA gene c.1528G>C, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.10
Last Updated
Version 2.73
Change Reason
Changed Component part from g.G1528C to c.1528G>C to harmonize with HGVS nomenclature guidelines.
Order vs. Observation
Both
Common Test Rank Get Info
19902

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen HADHA.G.análisis de mutación G1528C:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-ES Spanish (Spain) Gen HADHA c. G1528C:Presencia o identidad:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-MX Spanish (Mexico) Gen HADHA c.1528G> C:Presencia o identidad:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
fr-FR French (France) HADHA gène mutation c.1528G>C:Identification:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-IT Italian (Italy) HADHA, gene.c.1528G>C:Prid:Pt:Sangue/Tess:Nar:Molgen
Synonyms: Gene HADHA c.1528G>C Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) HADHA 유전자.g.G1528C 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL Dutch (Netherlands) HADHA-gen.c.1528G>C:identificator:moment:bloed of weefsel:tekstueel:moleculair genetisch onderzoek
Synonyms: HADHA gen.c.1528G>C molgen
pt-BR Portuguese (Brazil) HADHA gene.Gg1528C análise da mutação:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: ; HADHA g.G1528C; LCHAD deficiency; GBP; HADH; MTPA; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HADHA ген.c.1528G>C:ПрИд:ТчкВрм:Кр/Тк:Опис:МолГен
Synonyms: Кровь Кровь или Ткань Описательный Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HADHA geni.c.1528G>C:MevcKimlik:Zmlı:Kan/Dk:Öykü:Molgen
zh-CN Chinese (China) HADHA 基因.c.1528G>C:存在与否或特征标识:时间点:全血/组织:叙述型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 GBP;HADH;HADHA g.G1528C;LCHAD;LCHAD 缺乏;LCHAD 缺乏症;LCHAD 缺陷;LCHAD 缺陷症;Long chain hydmxyacyl CoA dehydmgenase deficiency;MTPA;长链羟化酰基 CoA 脱氢酶缺乏症;长链羟化酰基辅酶 A 脱氢酶缺乏症 全血或组织;血液/组织;血液或组织 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 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 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=34501-7