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Part Description

LP64729-4   FXN gene allele 1.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 allele 1.GAA repeats:EntNum:Pt:Bld/Tiss:Qn:Molgen
Long Common Name
FXN gene allele 1.GAA repeats [Entitic number] in Blood or Tissue by Molecular genetics method
Short Name
FXN allele 1 GAA Rpt EntNum Bld/T
Display Name
FXN gene allele 1.GAA repeats Molgen (Bld/Tiss) [Entitic number]
Consumer Name Alpha Get Info
FXN gene Allele 1 GAA Repeats, Blood or tissue specimen

Part Model Get Info

  • Component
    FXN gene allele 1.GAA repeats
    LP64729-4
    • Analyte
      FXN gene allele 1.GAA repeats
      LP64729-4
      • Component Numerator
        FXN gene allele 1.GAA repeats
        LP64729-4
        • Component Numerator Core
          FXN gene allele 1.GAA repeats
          LP64729-4
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    EntNum
    LP6806-6
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.70 (MIN)
Change Reason
Changed 'FRDA' in the Component to 'FXN', the current HGNC approved gene symbol. June 2015: Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen FXN alela 1.repetitivní sekvence GAA:Entitní počet:Časový bod:Krev/tkáň:Kvantitativní:Molekulární genetika
el-GRGreek (Greece)Επαναλήψεις αλληλόμορφου 1.GAA γονιδίου FXN:EntNum:Pt:Αίμα/Ιστός:Qn:Μοριακή γενετική
Synonyms: EntNum MOLPATH MOLPATH.NUCREPEAT Pt Qn Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο FXN Επαναλήψεις αλληλόμορφου 1.GAA γονιδίου FXN Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen FXN alelo 1. Repeticiones GAA:Número entítico:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
es-MXSpanish (Mexico)El alelo 1.GAA del gen FXN se repite:Número entitic:Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
fr-CAFrench (Canada)FXN allèle du gène 1.GAA répétitions:Nombre entitique:Temps ponctuel:Sang/Tissu:Quantitatif:Molgen
fr-FRFrench (France)FXN gène allèle 1 répétitions GAA:Nombre/entité:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-ITItalian (Italy)FRDA, gene allele 1.GAA ripetizioni:EntNum:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene FRDA Genetica molecolare Numero entitico Patologia molecolare Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni GAA dell''allele 1 del gene FRDA Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)FRDA-allel 1.GAA repeats:aantal/eenheid:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: FRDA gen molgen
pl-PLPolish (Poland)FXN gen allel 1.GAA powtórzenia:liczba zawarta w:punkt w czasie:krew lub tkanka:ilościowy:genetyka molekularna
Synonyms: diagnostyka molekularna Gen FXN Powtórzenia GAA w allelu 1 genu FXN
pt-BRPortuguese (Brazil)FRDA gene alelo 1.GAA repetições:EntNum:Pt:Sg/Tecido:Qn:Genética molecular
Synonyms: ; FRDA allele 1 GAA Rpt; X25; Friedreich ataxia 1; FARR; Human frataxin; Fxn; Entitic number; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; PCR; Molecular genetics; Repeat; I; MOLPATH.TRINUCLEOTIDE REPEATS; MOLPATH.TRINUCLEOTIDE REPEATS; Molecular pathology
ru-RURussian (Russian Federation)FRDA ген аллель 1.GAA 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-TRTurkish (Turkey)FRDA geni allel 1.GAA tekrarları:EntSay:Zmlı:Kan/Dk:Kant:Molgen
zh-CNChinese (China)FRDA 基因 等位基因 1.GAA 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: Ⅰ 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) FRDA allele 1 GAA Rpt;FRDA 等位基因 1 GAA Rpt;FRDA 等位基因 1 GAA 重复序列 I 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

UnitSource
{GAA_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=49634-9