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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.

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

LOINC Names Get Info

Fully-Specified Name
HTT gene.CAG repeats:PrThr:Pt:Amnio fld/CVS:Ord:Molgen
Long Common Name
HTT gene CAG repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method
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

Part Model Get Info

  • Component
    HTT gene.CAG repeats
    LP19792-8
    • Analyte
      HTT gene.CAG repeats
      LP19792-8
      • Component Numerator
        HTT gene.CAG repeats
        LP19792-8
        • Component Numerator Core
          HTT gene.CAG repeats
          LP19792-8
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • Time
    Pt
    LP6960-1
  • System
    Amnio fld/CVS
    LP185743-4
    • System Core
      Amnio fld/CVS
      LP185743-4
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Example Answer List: LL2303-7

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
Not ExpandedLA19353-4
IntermediateLA16550-8
Reduced penetranceLA19354-2
ExpandedLA19352-6

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.64 (MIN)
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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen HTT repetitivní sekvence CAG:Přítomnost nebo práh:Časový bod:Amniová tekutina/choriový klk:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο HTT.επαναλήψεις CAG:PrThr:Pt:Αμνιακό υγρό/ΕΝΥ:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.NUCREPEAT Ord PrThr Pt Αμνιακό υγρό Αμνιακό υγρό/ΕΝΥ Βιοψία χοριακής λάχνης Γονίδιο Γονίδιο HTT Γονίδιο HTT.επαναλήψεις CAG Μοριακή γενετική
es-ESSpanish (Spain)Repeticiones CAG del gen HTT:PrThr:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Ord:Genética molecular
es-MXSpanish (Mexico)HTT gene.CAG repeticiones:Presencia o umbral:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Ordinal:Genética molecular
fr-FRFrench (France)HTT gène répétitions CAG:Présence/Seuil:Ponctuel:Liquide amniotique/Villosités choriales:Qualitatif:Biologie moléculaire
it-ITItalian (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
pl-PLPolish (Poland)HTT gen.CAG powtórzenia:granica wykrywalności:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen HTT Powtórzenia CAG w genie HTT
tr-TRTurkish (Turkey)HD geni.CAG tekrarları:MevcEşik:Zmlı:Amnio sv/CVS:Srl:Molgen
Synonyms: Amniyon mayii Mevcut
zh-CNChinese (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