21694-5
HFE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
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
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- HFE gene Mut Anl Bld/T
- Display Name
- HFE gene targeted mutation analysis Molgen Nom (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 1.0m
- 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.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 6537
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | análisis de mutación del gen HFE: |
| es-ES | Spanish (Spain) | Gen HFE Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen HFE: |
| fr-CA | French (Canada) | Gène HFE ciblé, analyse de la mutation: |
| fr-FR | French (France) | HFE gène mutation cible trouvée: |
| it-IT | Italian (Italy) | HFE, gene analisi di mutazione mirata: Synonyms: Gene HFE Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | HFE 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | HFE-gen doelgerichte mutatie-analyse: Synonyms: HFE gen molgen targeted |
| pt-BR | Portuguese (Brazil) | HFE análise de mutação genética: Synonyms: HLAH; |
| ru-RU | Russian (Russian Federation) | HFE ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | HFE geni Mutasyon analizi: |
| zh-CN | Chinese (China) | HFE 基因 突变分析: Synonyms: HH; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=21694-5
LOINC Copyright
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