LOINC
Version 2.71

LP422925-0MLH1 gene methylation analysisActive

Descriptions

LP422925-0   MLH1 gene methylation analysis
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

LP422925-0   MLH1 gene methylation analysis
MLH1 gene methylation has been associated with many kinds of cancers with microsatellite instability Source: Regenstrief LOINC

Basic Part Properties

Name
MLH1 gene methylation analysis
Type
Component
Created On
2021-03-24
Construct for LOINC Short Name
MLH1 Methyl Anl

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP422925-0

Language Variants Get Info

nl-NLDutch (Netherlands)
MLH1-genmethylatie analyse
it-ITItalian (Italy)
MLH1, analisi di metilazione del gene
Synonyms: Analisi di metilazione del gene MLH1