Version 2.77

Part Descriptions

LP115710-8   MGMT gene methylation score
O(6)-methylguanine-DNA methyltransferase (MGMT) is an essential enzyme involved in the repair of damage caused by a variety of DNA crosslinking compounds, including alkylating agents. Hypermethylation of the MGMT gene promoter region causes diminished or silenced expression of the gene, making cells more sensitive to DNA damage and prone to tumor development. Approximately 40% to 45% of glioblastoma multiforme (GBM) tumors exhibit MGMT gene methylation. In patients with malignant brain tumors, the loss of activity has been shown to be a promising predictor of response to alkylating agent-based chemotherapies, including BCNU (carmustine), CCNU and Temozolomide. The loss of MGMT activity in tumor cells can no longer repair the methyl adduct formation caused by the chemotherapy, leading to lethal cross-links between DNA strands. Most patients with methylated MGMT (m_MGMT) experience an increase in overall survival and time to progression of the disease.

The MGMT and ß-Actin copy numbers will be used to calculate the ratio (score) of MGMT/ß-Actin x 1000.
<2 methylation not detected
≥2 and < 8 low level methylation
≥8 methylation detected Source: LOINC partner 1

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
MGMT gene methylation score
Property
Ratio
Time
Pt
System
Tiss
Scale
Qn
Method
Molgen

Additional Names

Short Name
MGMT methylation score Tiss
Display Name
MGMT gene methylation score Molgen (Tiss) [Ratio]
Consumer Name Alpha Get Info
MGMT gene methylation score, Tissue

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
13368

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Marcador del gen de metilación MGMT:Fracción:Punto temporal:Tejido:Qn:Genética molecular
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Puntuación de metilación del gen MGMT:Proporción:Punto temporal:Tejido y frotis:Cuantitativo:Genética molecular
fr-FR French (France) MGMT gène méthylation score:Ratio:Ponctuel:Tissu:Numérique:Biologie moléculaire
it-IT Italian (Italy) MGMT, punteggio di metilazione gene:Rapporto:Pt:Tessuto:Qn:Molgen
Synonyms: Genetica molecolare Metilazione del gene MGMT Patologia molecolare Punteggio di metilazione gene MGMT Punto nel tempo (episodio) Tessuto & Strisci
nl-NL Dutch (Netherlands) MGMT genmethylatie score:verhouding:moment:weefsel en uitstrijkjes:kwantitatief:moleculair genetisch onderzoek
Synonyms: molgen
ru-RU Russian (Russian Federation) MGMT ген метилирования число:Отношение:ТчкВрм:Тк:Колич:МолГен
Synonyms: Итог Количественный Коэффициент;Соотношение;Пропорция Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MGMT geni metilasyon skoru:Oran:Zmlı:Doku:Kant:Molgen
zh-CN Chinese (China) MGMT 基因甲基化评分:比率:时间点:组织与涂片:定量型:分子遗传学类实验室方法
Synonyms: MGMT 基因甲基化评分（分值、得分、分数）;OTTHUMP00000020741;methylguanine-DNA methyltransferase;O-6-methylguanine-DNA methyltransferase;甲基鸟嘌呤-DNA 甲基转移酶;O-6-甲基鸟嘌呤-DNA 甲基转移酶;甲基鸟嘌呤-DNA 转甲基酶;O-6-甲基鸟嘌呤-DNA 转甲基酶 OTTHUMP00000020741;methylguanine-DNA methyltransferase;O-6-methylguanine-DNA methyltransferase;甲基鸟嘌呤-DNA 甲基转移酶;O-6-甲基鸟嘌呤-DNA 甲基转移酶;甲基鸟嘌呤-DNA 转甲基酶;O-6-甲基鸟嘌呤-DNA 转甲基酶 分值;分数;得分 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 来自于不同体系的两个观察指标之比;比;比值 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=64083-9