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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:Bld/Tiss:Ord:Molgen
Long Common Name
FXN gene GAA repeats [Presence] in Blood or Tissue by Molecular genetics method
Short Name
FXN gene GAA Rpt Bld/T Ql
Display Name
FXN gene GAA repeats Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
FXN gene GAA Repeats, Blood or tissue specimen

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
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73 (MIN)
Change Reason
Changed 'FRDA' in the Component to 'FXN', the current HGNC approved gene symbol. June 2015: Changed Property from 'Pr' (Presence) to 'Threshold' since the results (e.g. positive, intermediate, negative) is based on a cut-off for the number of nucleotide repeats. Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.; 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
Common Test Rank Get Info
17542

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen FXN repetitivní sekvence GAA:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο FXN.επαναλήψεις GAA:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.NUCREPEAT Ord PrThr Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο FXN Γονίδιο FXN.επαναλήψεις GAA Ιστός Μοριακή γενετική
es-ARSpanish (Argentina)gen FRDA.repeticiones GAA:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ESSpanish (Spain)Repeticiones GAA del gen FXN:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Gene FXN Repite GAA:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)FXN gène répétitions GAA:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)FRDA, gene.GAA ripetizioni:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene FRDA Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni GAA del gene FRDA Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)FRDA 유전자.GAA 반복:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NLDutch (Netherlands)FRDA-gen.GAA repeats:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: FRDA gen FRDA gen.GAA repeats molgen
pl-PLPolish (Poland)FXN gen.GAA powtórzenia:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen FXN Powtórzenia GAA w genie FXN
pt-BRPortuguese (Brazil)FRDA gene.GAA repetições:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; FRDA gene GAA Rpt; X25; Friedreich ataxia 1; FARR; Human frataxin; Fxn; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Repeat; MOLPATH.TRINUCLEOTIDE REPEATS; MOLPATH.TRINUCLEOTIDE REPEATS; Molecular pathology
ru-RURussian (Russian Federation)FRDA ген.GAA повторы:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)FRDA geni.GAA tekrarları:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (China)FRDA 基因.GAA 重复序列:存在情况或阈值:时间点:全血/组织: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 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 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 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21762-0