Version 2.78

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

Fully-Specified Name

Component
HFE gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
HFE gene Mut Tested Bld/T
Display Name
HFE gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
HFE gene variants tested for, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.13
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
de-DE German (Germany) HFE-Gen Mutationen getestet auf:Nachweis oder Identität:Zeitpunkt:Blut oder Gewebe:Nominal:Molekulargenetisch
es-AR Spanish (Argentina) determinación de mutaciones del gen HFE:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES Spanish (Spain) Gen HFE Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones del gen HFE analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CA French (Canada) Gène HFE, Mutations testées:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR French (France) HFE gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) HFE, gene, mutazioni testate per: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 testato
ko-KR Korean (Korea, Republic Of) HFE 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) HFE-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: HFE gen molgen
pt-BR Portuguese (Brazil) HFE teste para mutação do gene: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 Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HFE ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HFE geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) HFE 基因 已测试的突变: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 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 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=21697-8