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Part Description

LP33173-3   FSHD gene
The FSHD gene (facioscapulohumeral muscular dystrophy 1A) gene is located on chromosome 4q35. Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. [provided by RefSeq, Sep 2011] [NCBI Gene ID:2489] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
FSHD gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
FSHD gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
FSHD gene Mut Bld/T Mut Anl
Display Name
FSHD gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
FSHD gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    FSHD gene mutations
    LP452058-3
    • Analyte
      FSHD gene mutations
      LP452058-3
      • Component Numerator
        FSHD gene mutations
        LP452058-3
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.83 (NAM)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen FSHD cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο FSHD στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο FSHD Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen FSHD Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen FSHD:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)FSHD gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)FSHD, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene FSHD Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)FSHD 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)FSHD-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: FSHD gen molgen targeted
pl-PLPolish (Poland)FSHD gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu FSHD diagnostyka molekularna Gen FSHD wynik kategorialny
pt-BRPortuguese (Brazil)FSHD análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Facioscapulohumeral muscular dystrophy; Landouzy Dejerine muscular dystrophy; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)FSHD ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)FSHD geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)FSHD 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: Landouzy Dejerine 肌肉萎缩症;Landouzy Dejerine 肌肉营养不良症;兰德二氏肌营养不良;兰德二氏肌营养不良症;面肩肱型肌营养不良症;面部肩胛肱骨肌肉萎缩症;面部肩胛肱骨肌肉营养不良症;颜肩肱肢型进行性肌肉萎缩症;颜面肩胛肱骨型肌肉失养症;面肩胛肱型肌营养不良症;Facioscapulohumeral muscular dystrophy;FSHD 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=41105-8