Version 2.78

Part Descriptions

LP30742-8   HEXA gene
The HEXA gene is located on chromosome 15q23 and encodes the alpha subunit of beta-hexosaminidase, which is responsible for the degradation of GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by the genes HEXA and HEXB, respectively. Mutations in both HEXA and HEXB lead to an accumulation of GM2 gangliosides in neurons result in neurodegenerative disorders termed the GM2 gangliosidoses. HEXA mutations are associated with Tay-Sachs disease (GM2-gangliosidosis type I), and HEXB mutations are associated with Sandhoff disease (GM2-gangliosidosis type II). In their classic forms, Tay-Sachs and Sandhoff diseases are clinically indistinguishable and are characterized by the onset of progressive neurodegeneration in infancy, followed by paralysis, dementia, and death by age 3. [OMIM: 272800] Source: Regenstrief LOINC, OMIM: 272800

LP30742-8   HEXA gene
The HEXA gene (hexosaminidase A (alpha polypeptide)) [HGNC Gene ID:4878] is located on chromosome 15q24.1. This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009] [NCBI Gene ID:3073] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
HEXA gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
HEXA gene Mut Tested Bld/T
Display Name
HEXA gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
HEXA gene variants tested for, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
12342

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HEXA Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones del gen HEXA analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) HEXA gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) HEXA, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene HEXA Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR Korean (Korea, Republic Of) HEXA 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) HEXA-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: HEXA gen molgen
pt-BR Portuguese (Brazil) HEXA teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Tay-Sachs disease; hexosaminidase A (alpha polypeptide) gene; N-acetyl-beta-glucosaminidase gene; TSD; beta-N-acetylhexosaminidase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HEXA ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HEXA geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) HEXA 基因 已测试的突变: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: beta-N-乙酰己糖胺酶基因;beta-N-乙酰氨基已糖苷酶基因;N-乙酰基-beta-己糖胺酶基因;N-乙酰基-beta-氨基葡糖苷酶基因;N-乙酰基-β-己糖胺酶基因;N-乙酰基-β-氨基葡糖苷酶基因;Tay-Sachs 氏病;Tay-Sachs 氏症;Tay-Sachs 病;Tay-Sachs 症;TSD;β-N-乙酰己糖胺酶基因;β-N-乙酰氨基已糖苷酶基因;己糖胺酶 A (alpha 多肽)基因;己糖胺酶 A (α多肽)基因;氨基已糖苷酶 A (alpha 多肽)基因;氨基已糖苷酶 A (α多 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 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 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=38900-7