81858-3

LOINC 2.82

GJB1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

GJB1 gene Fam Mut Anl Bld/T

Component

  • GJB1 gene mutation analysis limited to known familial mutations

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; Charcot-Marie-Tooth neuropathy, X-linked; CMTX; CMTX1; Connexin 32; Cx32; Document; Fam Mut Anl; Finding; Findings; gap junction protein, beta 1, 32kDa; Genetics; Heredity; Heritable; Inherited; LMTED; LTD; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Mutations; Muts; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Charcot-Marie-Tooth neuropathy, X-linked
  • CMTX
  • CMTX1
  • Connexin 32
  • Cx32
  • Document
  • Fam Mut Anl
  • Finding
  • Findings
  • gap junction protein, beta 1, 32kDa
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • LMTED
  • LTD
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mutation
  • Mutations
  • Muts
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue