Version 2.77

Term Description

Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the MECP2 gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. This test is used for diagnosing Rett syndrome or other methyl-CpG-binding protein 2 (MeCP2)-related disorders.[GHR gene: MECP2]
Source: Regenstrief LOINC

Part Description

LP33049-5   MECP2 gene
The MECP2 gene (methyl CpG binding protein 2) [HGNC Gene ID:6990] is located on chromosome Xq28. DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009] [NCBI Gene ID:4204] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
MECP2 gene deletion+duplication & full mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
MECP2 gene Del+Dup + Full Mut Anl Bld/T
Display Name
MECP2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
MECP2 gene variant analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) gen MECP2 estudio delecion+duplicacion y estudio mutacional completo:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Deleción del gen MECP2 + duplicación y análisis de mutación completo:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) MECP2 gène délétion+duplication et analyse complète des mutations:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) MECP2, gene Delezione+duplicazione & analisi di mutazione completa:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: delezione e duplicazione Gene MECP2 Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) MECP2-gen deletie + duplicatie & volledige mutatie analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: MECP2 gen molgen
tr-TR Turkish (Turkey) MECP2 geni delesyon+duplikasyon ve tam mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
Synonyms: çiftleme
zh-CN Chinese (China) MECP2 基因 缺失+重复与全面的突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: MeCP-2 蛋白基因;Methyl CpG 结合蛋白 2 基因;MRX16;PPMX;Rett 综合征;Rett 综合征(一种持续性神经系统退化性疾病);RTS;RTT;瑞特综合征;甲基 CpG 结合蛋白 2 基因;雷特氏综合征;雷特综合征 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 完整突变分析;综合突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复、重复基因、重复型基因、复制型基因）与全面的突变分析（突变全面分析、完整的突变分析、彻底的突变分析、全面型突变分析、全面式突变分析、突变全分析、突变彻底分析、全面突变分析） 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
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