Version 2.78

Fully-Specified Name

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

Additional Names

Short Name
HADHA c.1528G>C Bld/T Ql
Display Name
HADHA gene c.1528G>C Molgen Ql (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 2.15
Last Updated
Version 2.73
Change Reason
Changed Component part from g.G1528C to c.1528G>C to harmonize with HGVS nomenclature guidelines. Changed property from Arb (arbitrary) to Pr (presence) to reflect our current model for Ordinal terms where the results are based on the presence or absence of a mutation or variant.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
7326

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HADHA c. G1528C:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HADHA c.1528G> C:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) HADHA gène mutation c.1528G>C:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HADHA, gene.c.1528G>C:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene HADHA c.1528G>C Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia 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:명칭결과:분자유전
nl-NL Dutch (Netherlands) HADHA-gen.c.1528G>C:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: HADHA gen.c.1528G>C molgen
pt-BR Portuguese (Brazil) HADHA gene.g.G1528C análise da mutação:Ident:Pt:Sg/Tecido:Nom: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; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HADHA ген.c.1528G>C:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HADHA geni.c.1528G>C:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HADHA 基因.c.1528G>C:存在情况或阈值:时间点:全血/组织:序数型: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 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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

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