57962-3
FECH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Descriptions
LP97931-7 FECH gene
In most patients with erythropoietic protoporphyria (EPP), a pathogenic FECH mutation that reduces enzyme activity by 50% can be identified on only 1 allele. Clinical expression of EPP typically requires a hypomorphic (low expression) FECH allele (IVS3-48T->C) in trans (on a different chromosome) with the mutation. IVS3-48T->C is a variant of the FECH gene associated with reduced gene expression. This variant is found in approximately 10% of the general Caucasian population. Autosomal recessive inheritance (2 pathogenic mutations in trans) is infrequent, accounting for <4% of EPP cases. In contrast to patients with 1 pathogenic mutation and the low-expression allele, missense mutations are far more common than null mutations.
Copyright Copyright © 1995-2009
Source: Mayo Medical Laboratories
LP97931-7 FECH gene
The FECH gene (ferrochelatase) [HGNC Gene ID:3647] is located on chromosome 18q21.3. The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010] [NCBI Gene ID:2235]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FECH gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- FECH gene Mut Anl Bld/T
- Display Name
- FECH gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- FECH gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.29
- Last Updated
- Version 2.63
- 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
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen FECH Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen FECH: |
| fr-FR | French (France) | FECH gène mutation cible trouvée: |
| it-IT | Italian (Italy) | FECH, gene analisi di mutazione mirata: Synonyms: Gene FECH Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | FECH-gen doelgerichte mutatie-analyse: Synonyms: FECH gen molgen targeted |
| pt-BR | Portuguese (Brazil) | FECH análise de mutação do gene: Synonyms: Identity or presence; |
| ru-RU | Russian (Russian Federation) | FECH ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | FECH geni Mutasyon analizi: |
| zh-CN | Chinese (China) | FECH 基因 突变分析: Synonyms: EPP; |
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