94228-4
MUTYH gene full mutation analysis in Blood or Tissue by Sequencing
Active
Term Description
Full gene sequence analysis, such as by next-generation sequencing and/or Sanger sequencing, are performed to detect pathogenic variants within the MUTYH gene. This test is useful for identifying familial MUTYH mutations to allow for predictive or diagnostic testing as well as confirming a suspected clinical diagnosis of MUTYH-associated polyposis (MAP) in patients with adenomatous polyps or early-onset colorectal cancer.[GHR gene: MUTYH]
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
LP35690-4 MUTYH gene
The MUTYH gene (mutY homolog) [HGNC Gene ID:7527] is located on chromosome 1p34.1. This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. Mutations in this gene result in heritable predisposition to colon and stomach cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4595]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MUTYH gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Short Name
- MUTYH gene Full Mut Anl Bld/T Seq
- Display Name
- MUTYH gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MUTYH 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 MUTYH Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis completo de mutaciones del gen MUTYH: |
fr-FR | French (France) | MUTYH gène analyse complète des mutations: |
it-IT | Italian (Italy) | MUTYH, gene Analisi di mutazione completa: Synonyms: Gene MUTYH Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | MUTYH-gen volledige mutatie-analyse: Synonyms: MUTYH gen |
tr-TR | Turkish (Turkey) | MUTYH geni tam mutasyon analizi: Synonyms: Dizi tayini |
zh-CN | Chinese (China) | MUTYH 基因 全面突变分析: Synonyms: mutY (E. coli) 同源基因; |
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LOINC Copyright
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