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Term Description

Prenatal diagnosis of Friedreich's Ataxia (FRDA) by detecting the presence of a GAA expansion in the FXN gene in amniotic fluid or chorionic villus sample (CVS). This test may be performed when there is a family history of a GAA expansion, primarily if both parents are known carriers.

Part Description

LP19791-0   FXN gene.GAA repeats
The GAA trinucleotide repeat expansion in the FXN gene causes Friedreich ataxia, a neuromuscular condition with symptoms of ataxia, impaired speech, spasticity, and gradual loss of strength and sensation in the arms and legs. Most individuals with Friedreich ataxia have the expanded GAA trinucleotide repeat in both copies of the FXN gene. The GAA segment is repeated 66 to more than 1,000 times. About 2 percent of people with this condition have an expanded GAA trinucleotide repeat in one copy of the FXN gene and another kind of mutation in the other copy of the gene. Mutations in the FXN gene disrupt production of frataxin, greatly reducing the amount of this protein in cells. Source: Genetic Home Reference, National Library of Medicine, FXN gene

LOINC Names Get Info

Fully-Specified Name
FXN gene.GAA repeats:PrThr:Pt:Amnio fld/CVS:Ord:Molgen
Long Common Name
FXN gene GAA repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method
Short Name
FXN gene GAA Rpt Amn/CVS Ql
Display Name
FXN gene GAA repeats Molgen Ql (Amnio fld/CVS)
Consumer Name Alpha Get Info
FXN gene GAA Repeats, Amnio Fld/CVS

Part Model Get Info

  • Component
    FXN gene.GAA repeats
    LP19791-0
    • Analyte
      FXN gene.GAA repeats
      LP19791-0
      • Component Numerator
        FXN gene.GAA repeats
        LP19791-0
        • Component Numerator Core
          FXN gene.GAA repeats
          LP19791-0
        • 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: LL2977-8

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
Normal fetus (no copies of the expanded gene detected)LA21344-9
Carrier of the expanded geneLA21343-1
Affected fetus (carries two copies of the expanded gene)LA21345-6

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 FXN repetitivní sekvence GAA:Přítomnost nebo práh:Časový bod:Amniová tekutina/choriový klk:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο FXN.επαναλήψεις GAA: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 FXN Γονίδιο FXN.επαναλήψεις GAA Μοριακή γενετική
es-ESSpanish (Spain)Repeticiones GAA del gen FXN:PrThr:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Ord:Genética molecular
es-MXSpanish (Mexico)Gene FXN Repite GAA:Presencia o umbral:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Ordinal:Genética molecular
fr-FRFrench (France)FXN gène répétitions GAA:Présence/Seuil:Ponctuel:Liquide amniotique/Villosités choriales:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)FRDA, gene.GAA ripetizioni:PrThr:Pt:Liquido amniotico/Villi coriali, prelievo:Ord:Molgen
Synonyms: Campione di villi coriali Gene FRDA Genetica molecolare Liquido amniotico Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni GAA del gene FRDA
pl-PLPolish (Poland)FXN gen.GAA powtórzenia:granica wykrywalności:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen FXN Powtórzenia GAA w genie FXN
tr-TRTurkish (Turkey)FRDA geni.GAA tekrarları:MevcEşik:Zmlı:Amnio sv/CVS:Srl:Molgen
Synonyms: Amniyon mayii Mevcut
zh-CNChinese (China)FRDA 基因.GAA 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: FARR;Friedreich 共济失调 1;Fxn;X25;人共济蛋白(Human frataxin);人共济蛋白(Human frataxin, 可溶性线粒体蛋白);人类 frataxin (Human frataxin);人类共济蛋白(Human frataxin) 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=75392-1