94208-6

LOINC 2.82

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

MLYCD Del+Dup + Full Mut Anl Bld/T

Definition

  • Full gene sequence analysis of all coding regions and intron/exon boundaries of the MLYCD gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. Alterations in the MLYCD gene cause malonyl-coenzyme A decarboxylase (MCD) deficiency, a rare autosomal recessive inborn error of fatty acid metabolism.[GHR gene: MLYCD]

Component

  • MLYCD gene deletion+duplication & full mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; malonyl-CoA decarboxylase; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Amplification
  • Blood
  • Del
  • Del+Dup
  • Del+Dup + Full Mut Anl
  • Deletions
  • Document
  • Dp
  • Finding
  • Findings
  • full gene sequencing
  • Full Mut Anl
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • malonyl-CoA decarboxylase
  • MLYCD gene deletion+duplication & full mutation analysis
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • Mut
  • Mutations
  • PCR
  • Point in time
  • Random
  • sequencing of entire coding region
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue