Version 2.78

Part Description

LP19715-9   HADHB gene
The HADHB gene (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit) [HGNC Gene ID:4803] is located on chromosome 2p23. This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013] [NCBI Gene ID:3032] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
HADHB gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
HADHB gene Mut Anl Bld/T
Display Name
HADHB gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
HADHB gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
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

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) análisis de mutación del gen HADHB:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES Spanish (Spain) Gen HADHB Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen HADHB:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) HADHB gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) HADHB, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene HADHB 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) HADHB 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) HADHB-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: HADHB gen molgen targeted
pt-BR Portuguese (Brazil) HADHB análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Long chain-3 hydroxyacyl-CoA dehydrogenase deficiency; Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit; 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) HADHB ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HADHB geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) HADHB 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 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 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 未作说明的组织;组织;组织 & 涂片 极长链-3-羟酰基辅酶 A 脱氢酶缺乏症;极长链酰基辅酶 A 脱氢酶缺乏症;羟酰基-CoA 脱氢酶/3-酮酰基-CoA 硫解酶/烯酰基-CoA 水合酶 (三功能蛋白), beta 亚单位;羟酰基-CoA 脱氢酶/3-酮酰基-CoA 硫解酶/烯酰基-CoA 水合酶 (三功能蛋白), beta 亚基;羟酰基-CoA 脱氢酶/3-酮酰基-CoA 硫解酶/烯酰基-CoA 水合酶 (三功能蛋白), β亚单位;羟酰基-CoA 脱氢酶/3-酮酰基-CoA 硫解酶/烯酰基-CoA 水合酶 (三功能蛋白), β亚基;羟酰基 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21685-3