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 targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
HFE gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
HFE gene Mut Anl Bld/T
Display Name
HFE gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
HFE gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.10
Last Updated
Version 2.73
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
2919

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Hämochromatose Mut.
es-ES Spanish (Spain) Gen HFE Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-AR Spanish (Argentina) análisis de mutación del gen HFE:presencia o identidad:punto en el tiempo:sangre entera/tejido:Narrativo:genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen HFE:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-CA French (Canada) Gène HFE ciblé, analyse de la mutation:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
fr-FR French (France) HFE gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) HFE, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene HFE Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) HFE 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL Dutch (Netherlands) HFE-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: HFE gen molgen targeted
pt-BR Portuguese (Brazil) HFE análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: HLAH; HH; Hereditary hemochromatosis; Haemochromatosis; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HFE ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HFE geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) HFE 基因 突变分析:发现:时间点:全血/组织:文档型: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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=34519-9