41101-7

LOINC 2.82

GJB2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

GJB2 gene Mut Anl Bld/T

Component

  • GJB2 gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Prid

Scale

  • Nom

Method

  • Molgen

Related names

  • Blood; Connexin 26; CX26; Deafness, autosomal dominant 3; Deafness, autosomal recessive 1; DFNA3; DFNA3A; DFNB1; DFNB1A; Gap junction beta-2 protein gene; gap junction protein, beta 2, 26kDa; Genetics; Heredity; Heritable; HID; Identity or presence; Inherited; KID; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; Nominal; NSRD1; PCR; Point in time; PPK; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Connexin 26
  • CX26
  • Deafness, autosomal dominant 3
  • Deafness, autosomal recessive 1
  • DFNA3
  • DFNA3A
  • DFNB1
  • DFNB1A
  • Gap junction beta-2 protein gene
  • gap junction protein, beta 2, 26kDa
  • Genetics
  • GJB2 gene targeted mutation analysis
  • Heredity
  • Heritable
  • HID
  • Identity or presence
  • Inherited
  • KID
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • Nominal
  • NSRD1
  • PCR
  • Point in time
  • PPK
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue