Version 2.78

Term Description

Prenatal diagnosis of Huntington disease (HD) by detecting the presence of a CAG expansion in the HTT gene in amniotic fluid or chorionic villus sample
(CVS). This test may be performed when there is a family history of a CAG expansion.
Source: Regenstrief LOINC

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
PrThr
Time
Pt
System
Amnio fld/CVS
Scale
Ord
Method
Molgen

Additional Names

Short Name
HTT gene CAG Rpt Amn/CVS Ql
Display Name
HTT gene CAG repeats Molgen Ql (Amnio fld/CVS)
Consumer Name Alpha Get Info
HTT gene CAG Repeats, Amnio Fld/CVS

Example Answer List: LL2303-7

Source: Regenstrief LOINC
Answer Code Score Answer ID
Not Expanded LA19353-4
Intermediate LA16550-8
Reduced penetrance LA19354-2
Expanded LA19352-6

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.64
Change Reason
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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Repeticiones CAG del gen HTT:PrThr:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Ord:Genética molecular
es-MX Spanish (Mexico) HTT gene.CAG repeticiones:Presencia o umbral:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Ordinal:Genética molecular
fr-FR French (France) HTT gène répétitions CAG:Présence/Seuil:Ponctuel:Liquide amniotique/Villosités choriales:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HD gene.CAG ripetizioni:PrThr:Pt:Liquido amniotico/Villi coriali, prelievo:Ord:Molgen
Synonyms: Campione di villi coriali Gene HD Genetica molecolare Liquido amniotico Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CAG del gene HD
tr-TR Turkish (Turkey) HD geni.CAG tekrarları:MevcEşik:Zmlı:Amnio sv/CVS:Srl:Molgen
Synonyms: Amniyon mayii Mevcut
zh-CN Chinese (China) HTT 基因.CAG 重复序列:存在情况或阈值:时间点:羊水/绒毛膜绒毛样本:序数型: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 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 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 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 遗传基因;遗传因子;吉恩;生物基因 重复

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75393-9