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Part Descriptions

LP19724-1   HFE gene
Hemochromatosis (HFE) gene mutation analysis confirms the diagnosis of hereditary hemochromatosis (HH) when serum transferrin-iron saturation results are elevated. HH is the most common autosomal recessive disease in the Caucasian population. HH causes excess iron absorption that leads to iron deposits in tissues and organs, eventually leading to organ dysfunction and failure. HH can also cause cirrhosis, hepatomas, diabetes, cardiomyopahty, arthritis, and hypogonadotrophic hypogonadism. Source: Regenstrief Institute

LP19724-1   HFE gene
The HFE gene (hemochromatosis) [HGNC Gene ID:4886] is located on chromosome 6p21.3. The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3077] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

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

Part Model Get Info

  • Component
    HFE gene mutations
    LP451922-1
    • Analyte
      HFE gene mutations
      LP451922-1
      • Component Numerator
        HFE gene mutations
        LP451922-1
      • 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 1.0m
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
Common Test Rank Get Info
6537

Language Variants Get Info

TagLanguageTranslation
ar-JOArabic (Jordan)الكشف عن طفرات جينية في جين الـ HFE في الدم أو الأنسجة ( بتقنية علم الوراثة الجزيئية (
cs-CZCzech (Czechia)Gen HFE cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο HFE στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο HFE Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ARSpanish (Argentina)análisis de mutación del gen HFE:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ESSpanish (Spain)Gen HFE Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen HFE:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)HFE gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)HFE, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene HFE Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)HFE 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)HFE-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: HFE gen molgen targeted
pl-PLPolish (Poland)HFE gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu HFE diagnostyka molekularna Gen HFE wynik kategorialny
pt-BRPortuguese (Brazil)HFE análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: HLAH; HH; Hereditary hemochromatosis; Haemochromatosis; 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)HFE 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)HFE geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)HFE 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: HH;HLAH;色素性肝硬变;血色沉着;血色沉着病;血色病;血色素沉着;血色素沉着病;血色素沉着症;遗传性色素性肝硬变;遗传性血色沉着;遗传性血色沉着病;遗传性血色病;遗传性血色素沉着;遗传性血色素沉着病;遗传性青铜色糖尿病;青铜色糖尿病 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

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