Version 2.80

Term Description

Percent methylation = methylated full mutation/(methylated full mutation+unmethylated full mutation) band intensities

Part Descriptions

LP129556-9   FMR1 gene methylation
Percent methylation is one of the tests ordered after more conventional Fragile X testing is positive. This test is performed only on full mutation patients, and is more frequently requested in males. The value is traditionally reported as a percent, and it represents the fraction of all full mutation bands that are methylated. Effectively, it represents the proportion of the patient's cells that would not be able to make protein. Clinically, higher % methylation results in lower levels of protein and, therefore, decreased cognitive ability. The calculation is done from band intensities on a Southern blot as follows: (methylated full mutation band intensities) / (sum of intensities of the methylated full mutation bands + unmethylated full mutation bands). 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
FMR1 gene methylation/methylated+unmethylated
Property
NFr
Time
Pt
System
Bld
Scale
Qn
Method
Molgen

Additional Names

Long Common Name
FMR1 gene methylation/methylated+unmethylated in Blood by Molecular genetics method
Short Name
FMR1 methylation NFr Bld
Display Name
FMR1 gene methylation/methylated+unmethylated Molgen (Bld)
Consumer Name Alpha Get Info
FMR1 gene methylation/methylated+unmethylated, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.70 (MIN)
Change Reason
Changed Order_Obs from 'Observation Only' to 'Both' to fit current order use cases.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Μεθυλίωση γονιδίου FMR1/μεθυλιωμένη+μη μεθυλιωμένη:NFr:Pt:Αίμα:Qn:Μοριακή γενετική
Synonyms: NFr Γονίδιο Γονίδιο FMR1 Μεθυλίωση γονιδίου FMR1
es-ES Spanish (Spain) Metilación del Gen FMR1/Metilado+desmetilado:Fracción numérica:Punto temporal:Sangre:Qn:Genética molecular
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Metilación del gen FMR1 / metilado + no metilado:Fracción numérica:Punto temporal:Sangre:Cuantitativo:Genética molecular
fr-FR French (France) FMR1 gène méthylation/méthylé+non-méthylé:Fraction de nombres:Ponctuel:Sang:Numérique:Biologie moléculaire
it-IT Italian (Italy) FMR1, metilazione gene/metilato+non metilato:NFr:Pt:Sangue:Qn:Molgen
Synonyms: Frazione numerica Gene FMR1 Genetica molecolare Metilazione gene FMR1 Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) FMR1-gen methylering/gemethyleerd + ongemethyleerd:getalsfractie:moment:bloed:kwantitatief:moleculair genetisch onderzoek
Synonyms: FMR1 gen FMR1 gen methylering molgen
ru-RU Russian (Russian Federation) FMR1 ген метилирование/метилированный+неметилированный:КолДоля:ТчкВрм:Кр:Колич:МолГен
Synonyms: Количественный Количество отношение Кровь Точка во времени;Момент
tr-TR Turkish (Turkey) FMR1 geni metilation/metillenmiş+metillenmemiş:SayFr:Zmlı:Kan:Kant:Molgen
zh-CN Chinese (China) FMR1 基因甲基化/甲基化+非甲基化:计数型分数:时间点:全血:定量型:分子遗传学类实验室方法
Synonyms: 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 甲基化+未甲基化 脆性 X;脆性 X 智力低下 1;脆性 X 智力缺陷 1;脆性 X 智力迟钝 1;脆性 X 染色体综合征;脆性 X 综合征;脆性 X 综合征智力低下基因 1 血;血液 遗传基因;遗传因子;吉恩;生物基因

Example Units

Unit Source
% Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=66875-6