66875-6

FMR1 gene methylation/methylated+unmethylated in Blood by Molecular genetics method

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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

LOINC Names Get Info

Fully-Specified Name: FMR1 gene methylation/methylated+unmethylated:NFr:Pt:Bld:Qn:Molgen
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

Part Model Get Info

Component
FMR1 gene methylation/methylated+unmethylated
LP286039-5
- Analyte
  FMR1 gene methylation/methylated+unmethylated
  LP286039-5
  - Component Numerator
    FMR1 gene methylation
    LP129556-9
    - Component Numerator Core
      FMR1 gene methylation
      LP129556-9
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    methylated+unmethylated
    LP129557-7
    - Component Denominator Core
      methylated+unmethylated
      LP129557-7
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
NFr
LP6838-9
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld
LP7057-5
- System Core
  Bld
  LP7057-5
- Super System
  NULL
Scale
Qn
LP7753-9
Method
Molgen
LP6404-0

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
cs-CZ	Czech (Czechia)	Gen FMR1 methylace/methylované+nemethylované:Početní podíl:Časový bod:Krev:Kvantitativní:Molekulární genetika
el-GR	Greek (Greece)	Μεθυλίωση γονιδίου FMR1/μεθυλιωμένη+μη μεθυλιωμένη:NFr:Pt:Αίμα:Qn:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT NFr Pt Qn Αίμα Γονίδιο Γονίδιο FMR1 μεθυλιωμένη+μη μεθυλιωμένη Μεθυλίωση γονιδίου FMR1 Μοριακή γενετική
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
pl-PL	Polish (Poland)	FMR1 gen metylacja/metylowany+niemetylowany:frakcja liczbowa:punkt w czasie:krew:ilościowy:genetyka molekularna Synonyms: diagnostyka molekularna Gen FMR1;Gen zespołu łamliwego chromosomu X Metylacja genu FMR1
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

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.