94233-4
FECH gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis of the FECH (ferrochelatase) gene to identify pathogenic mutations associated with erythropoietic protoporphyria (EPP).[GHR gene: FECH]
Source: Regenstrief LOINC
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
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 full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- FECH gene Full Mut Anl Bld/T Seq
- Display Name
- FECH gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- FECH gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen FECH Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen FECH: |
fr-FR | French (France) | FECH gène analyse complète des mutations: |
it-IT | Italian (Italy) | FECH, gene Analisi di mutazione completa: Synonyms: Gene FECH Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | FECH-gen volledige mutatie-analyse: Synonyms: FECH gen |
tr-TR | Turkish (Turkey) | FECH geni tam mutasyon analizi: Synonyms: Dizi tayini |
zh-CN | Chinese (China) | FECH 基因 全面突变分析: Synonyms: EPP; |
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LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright