94229-2

LOINC 2.82

MECP2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

MECP2 gene Del+Dup + Full Mut Anl Bld/T

Definition

  • 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]

Component

  • MECP2 gene deletion+duplication & full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Amplification; AUTSX3; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; MeCP-2 protein gene; methyl CpG binding protein 2; Methyl CpG binding protein 2 gene; Molecular genetics; Molecular pathology; MOLPATH; MRX16; MRX79; MRXS13; MRXSL; Mut; Mutations; PCR; Point in time; PPMX; Random; Rett syndrome; RS; RTS; RTT; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Amplification
  • AUTSX3
  • Blood
  • Del
  • Del+Dup
  • Del+Dup + Full Mut Anl
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • MeCP-2 protein gene
  • MECP2 gene deletion+duplication & full mutation analysis
  • methyl CpG binding protein 2
  • Methyl CpG binding protein 2 gene
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MRX16
  • MRX79
  • MRXS13
  • MRXSL
  • Mut
  • Mutations
  • PCR
  • Point in time
  • PPMX
  • Random
  • Rett syndrome
  • RS
  • RTS
  • RTT
  • sequencing of entire coding region
  • Tissue

4 further terms