Version 2.80

Part Descriptions

LP121196-2   SEPT9 gene methylation
Detection of circulating methylated DNA from the SEPT9 gene, which is involved in cytokinesis and cell cycle control, aids in the detection of colorectal cancer (CRC). Source: Quest Diagnostics Inc. , ColoVantage

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
SEPT9 gene methylation
Property
PrThr
Time
Pt
System
Plas
Scale
Ord
Method
Molgen

Additional Names

Long Common Name
SEPT9 gene methylation [Presence] in Plasma by Molecular genetics method
Short Name
SEPT9 gene methylation Plas Ql
Display Name
SEPT9 gene methylation Molgen Ql (P)
Consumer Name Alpha Get Info
SEPT9 gene methylation, Blood

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.73 (MIN)
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
4754

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Μεθυλίωση γονιδίου SEPT9:PrThr:Pt:Πλάσμα:Ord:Μοριακή γενετική
Synonyms: PrThr Γονίδιο Γονίδιο SEPT9 Μεθυλίωση γονιδίου SEPT9
es-ES Spanish (Spain) Metilación del Gen SEPT9:PrThr:Punto temporal:Plasma:Ord:Genética molecular
es-MX Spanish (Mexico) Metilación del gen SEPT9:Presencia o umbral:Punto temporal:Plasma:Ordinal:Genética molecular
fr-FR French (France) SEPT9 gène méthylation:Présence/Seuil:Ponctuel:Plasma:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) SEPT9, metilazione gene:PrThr:Pt:Plasma:Ord:Molgen
Synonyms: Gene SEPT9 Genetica molecolare Metilazione gene SEPT9 Patologia molecolare Plasma Presenza o Soglia Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) SEPT9-genmethylatie:aanwezigheid:moment:plasma:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen SEPT9 gen
ru-RU Russian (Russian Federation) SEPT9 ген метилирование:PrThr:ТчкВрм:Плаз:Пор:МолГен
Synonyms: Плазма Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) SEPT9 geni metilasyonu:MevcEşik:Zmlı:Plaz:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) SEPT9 基因甲基化:存在情况或阈值:时间点:血浆:序数型:分子遗传学类实验室方法
Synonyms: AF17q25;FLJ75490;KIAA0991;MSF;MSF1;NAPB;PNUTL4;SeptD1;SINT1;MLL septin-like fusion;Ov/Br septin;ovarian/breast septin;septin D1;septin 9;MLL 胞裂蛋白样融合蛋白;Ov/Br 胞裂蛋白;卵巢/乳腺胞裂蛋白;胞裂蛋白 D1;胞裂蛋白 9;隔膜蛋白 9 AF17q25;KIAA0991;MLL Septin-Like Fusion Protein;MLL Septin-Like Fusion Protein MSF-A;MSF;MSF1;NAPB;Ov/Br Septin;Ovarian/Breast Septin;PNUTL4;SeptD1;Septin 9;Septin D1;Septin-9;SINT1;MLL 胞裂蛋白样融合蛋白;MLL 胞裂蛋白样融合蛋白 MSF-A;Ov/Br 胞裂蛋白;卵巢/乳腺胞裂蛋白;胞裂蛋白 9;胞裂蛋白 D1;胞裂蛋 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 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 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=65810-4