Version 2.78

Term Description

MLH1 gene methylation analysis in blood is performed as an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation, or as an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite instability-H (MSI-H) and loss of MLH1 protein expression.
Source: Regenstrief LOINC

Part 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

LP124510-1   gene methylation
DNA methylation is essential during embryonic development, and patterns of DNA methylation are generally transmitted to daughter cells with a high fidelity. In cancer, aberrant DNA methylation patterns are found in two distinct forms: hypermethylation and hypomethylation. Hypermethylation is one of the major epigenetic modifications that repress transcription via the promoter region of tumor suppressor genes. Hypermethylation typically occurs at CpG islands in the promoter region and is associated with gene inactivation. Hypomethylation, linked to chromosomal instability and loss of imprinting, arises earlier and occurs throughout the progression of cancer.

More specifically, methylated DNA can bind to methyl-CpG-binding domain proteins (MBDs), which recruit additional proteins such as histone deacetylases and other chromatin remodeling proteins that modify histones to form compact, inactive chromatin, termed silent chromatin. Loss of methyl-CpG-binding protein 2 (MeCP2) has been implicated in Rett syndrome; and methyl-CpG-binding domain protein 2 (MBD2) mediates the transcriptional silencing of hypermethylated genes in cancer. Research has suggested that long-term memory storage in humans may be regulated by DNA methylation. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, Wikipedia

Fully-Specified Name

Component
MLH1 gene methylation analysis
Property
Find
Time
Pt
System
Bld
Scale
Doc
Method
Molgen

Additional Names

Short Name
MLH1 Methyl Anl Bld
Display Name
MLH1 gene methylation analysis Molgen Doc (Bld)
Consumer Name Alpha Get Info
MLH1 gene methylation analysis, Blood

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Análisis de metilación del gen MLH1:Hallazgo:Punto temporal:Sangre:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de metilación del gen MLH1:Encontrar:Punto temporal:Edificio:Documento:Molgen
fr-FR French (France) MLH1 gene analyse méthylation:Recherche:Ponctuel:Sang:Document:Biologie moléculaire
it-IT Italian (Italy) MLH1, analisi di metilazione del gene:Osservazione:Pt:Sangue:Doc:Molgen
Synonyms: Analisi di metilazione del gene MLH1 Gene MLH1 Genetica molecolare Metilazione del gene MLH1 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) MLH1-genmethylatie analyse:bevinding:moment:bloed:document:moleculair genetisch onderzoek
Synonyms: MLH1 gen molgen
zh-CN Chinese (China) MLH1 基因甲基化分析:发现:时间点:全血:文档型:分子遗传学类实验室方法
Synonyms: COCA2;FCC2;hMLH1;HNPCC;HNPCC2;MGC5172;MutL 同源基因 1, 结肠癌, 非多发性息肉 2 型;MutL 同源基因 1, 结肠癌, 非息肉病 2 型 MLH1（MutL Homolog 1、MutL 同源蛋白 1、MutL 同源物、MutL 同系物）基因甲基化分析 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=97760-3