Version 2.77

Part Description

LP19792-8   HTT gene.CAG repeats
Expansion of the CAG triplet repeat in the HTT gene (also known as IT15 or HD gene) causes Huntington disease (HD), a progressive brain disorder that causes uncontrolled movements, emotional changes, and loss of cognition. The HTT gene is located on chromosome 4 and position p16.3. The expanded CAG segment leads to the production of an abnormally long version of the huntingtin protein. People with Huntington disease have 36 to more than 120 CAG repeats. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder. Source: Genetic Home Reference, National Library of Medicine, HTT gene

Fully-Specified Name

Component
HTT gene.CAG repeats
Property
EntNum
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
Molgen

Additional Names

Short Name
HTT gene CAG Rpt EntNum Bld/T
Display Name
HTT gene CAG repeats Molgen (Bld/Tiss) [Entitic number]
Consumer Name Alpha Get Info
HTT gene CAG Repeats, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.64
Change Reason
Changed gene name from HD to HTT, the current (2012) approved HUGO gene name.
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
53783-7 HTT gene mutation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Repeticiones CAG del gen HTT:Número entítico:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
es-MX Spanish (Mexico) HTT gene.CAG repeticiones:Número entitic:Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
fr-FR French (France) HTT gène répétitions CAG:Nombre/entité:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-IT Italian (Italy) HD gene.CAG ripetizioni:EntNum:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene HD Genetica molecolare Numero entitico Patologia molecolare Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CAG del gene HD Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HTT-gen.CAG repeats:aantal/eenheid:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: HTT gen HTT gen.CAG repeats molgen
pt-BR Portuguese (Brazil) HD gene.CAG repetições:EntNum:Pt:Sg/Tecido:Qn:Genética molecular
Synonyms: ; HD gene CAG Rpt; Huntington disease; IT15; Huntington chorea; Entitic number; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; PCR; Molecular genetics; Repeat; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HTT ген.CAG повторы:СущнЧисл:ТчкВрм:Кр/Тк:Колич:МолГен
Synonyms: Количественный Кровь Кровь или Ткань Сущность число;Число сущностей Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HD geni.CAG tekrarları:EntSay:Zmlı:Kan/Dk:Kant:Molgen
zh-CN Chinese (China) HTT 基因.CAG 重复序列:实体数量:时间点:全血/组织:定量型:分子遗传学类实验室方法
Synonyms: HD 基因.CAG 重复序列;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 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;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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 实体计数 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 重复

Example Units

Unit Source
CAG repeats REGENSTRIEF
{CAG_repeats} Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53782-9