Version 2.78

Part Descriptions

LP99240-1   MLH1 gene methylation
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
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
MLH1 gene methylation Bld/T Ql
Display Name
MLH1 gene methylation Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
MLH1 gene methylation, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.30
Last Updated
Version 2.73
Change Reason
Release 2.72: PROPERTY: Updated Property from Arb to align with similar terms; SYSTEM: Updated System from Tiss as this test can be done using blood or tissue specimens;
Order vs. Observation
Both
Common Test Rank Get Info
15582

Member of these Panels

LOINC Long Common Name
85905-8 Cancer pathology panel - Colorectal cancer specimen by CAP cancer protocols

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Metilación del gen MLH1:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Metilación del gen MLH1:Arbitrario:Punto temporal:Tejido y frotis:Ordinal:Genética molecular
fr-FR French (France) MLH1 gène méthylation:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) MLH1, metilazione gene:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene MLH1 Genetica molecolare Metilazione del gene MLH1 Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) MLH1 genmethylatie:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: MLH1 gen molgen
pt-BR Portuguese (Brazil) MLH1 gene metilação:#N/A:Pt:Tecido:Ord:Genética molecular
Synonyms: MutL homolog 1, colon cancer, nonpolyposis type 2; COCA2; FCC2; HNPCC; HNPCC2; MGC5172; hMLH1; Arbitrary; Point in time; Random; Tissue; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Molecular pathology
ru-RU Russian (Russian Federation) MLH1 ген метилирование:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MLH1 geni metilation:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) MLH1 基因甲基化:存在情况或阈值:时间点:全血/组织:序数型: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 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况(存在、存在与否、是否存在)或阈值(界值、界限、阀值、临界值) 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 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=58416-9