42321-0

HTT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP36037-7 HTT gene
The HTT gene (huntingtin) [HGNC Gene ID:4851] is located on chromosome 4p16.3. Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression.[provided by RefSeq, Jul 2008] [NCBI Gene ID:3064] Source: National Center for Biotechnology Information (NCBI) Gene, HTT gene

Fully-Specified Name

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

Additional Names

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

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.16
Last Updated: Version 2.73
Change Reason: Changed gene name from HD to HTT, the current (2012) approved HUGO gene name.; 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
Common Test Rank Get Info: 18634

Language Variants Get Info

Tag	Language	Translation
es-ES	Spanish (Spain)	Gen HD Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen HTT:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CA	French (Canada)	Gène HTT ciblé, analyse de la mutation:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR	French (France)	HTT gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	HD, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene HD 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)	HD 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	HTT-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: HTT gen molgen targeted
pt-BR	Portuguese (Brazil)	HD análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Huntington disease; IT15; Huntington chorea; 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)	HTT 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)	HD geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
uk-UA	Ukrainian (Ukraine)	HTT ген аналіз цільової мутації:Наявність або Ідентифікація:МоментЧасу:Кров/Тканини:Категорійно:Молекулярна генетика Synonyms: 5HTT; 5-HTT; 5-HTTLPR; Blood; Genetics; HD gene; Heredity; Heritable; hSERT; HTT; huntingtin; Huntington chorea; Huntington disease; Huntington's disease; Identity or presence; Inherited; IT15; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; OCD1; PCR; Point in time; Random; SERT; SERT1; solute carrier family 6 (neurotransmitter transporter), member 4; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
zh-CN	Chinese (China)	HTT 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: Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因全血或组织;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 & 涂片血;血液遗传基因;遗传因子;吉恩;生物基因

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