LP422925-0
MLH1 gene methylation analysis
Active
Descriptions
The MLH1 gene (mutL homolog 1) [HGNC Gene ID:7127] is located on chromosome 3p21.3. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome. It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009] [NCBI Gene ID:4292] Source: National Center for Biotechnology Information (NCBI) Gene
MLH1 gene methylation has been associated with many kinds of cancers with microsatellite instability Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- MLH1 gene methylation analysis
- Part Display Name
- MLH1 gene methylation analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2021-03-23
- Construct for LOINC Short Name
- MLH1 Methyl Anl
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| fr-FR | French (France) | MLH1 gene analyse méthylation |
| it-IT | Italian (Italy) | MLH1, analisi di metilazione del gene Synonyms: Analisi di metilazione del gene MLH1 |
| nl-NL | Dutch (Netherlands) | MLH1-genmethylatie analyse |
| es-ES | Spanish (Spain) | Análisis de metilación del gen MLH1 |
| zh-CN | Chinese (China) | MLH1 基因甲基化分析 Synonyms: MLH1（MutL Homolog 1、 |
| pl-PL | Polish (Poland) | Analiza mutacji ukierunkowana na gen MLH1 Synonyms: Analiza mutacji genu MLH1 |
| el-GR | Greek (Greece) | Ανάλυση μεθυλίωσης γονιδίου MLH1 Synonyms: Ανάλυση μεθυλίωσης γονιδίου MLH1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://