71358-6

LOINC 2.82

GJB3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

GJB3 gene Mut Anl Bld/T

Definition

  • Multiple variants or mutations within the gap junction protein, beta 3 (GJB3) gene are associated with Sensorineural Hearing Loss (SNHL). This term was created for, but not limited to, Asper Biotech's Sensorineural Hearing Loss (SNHL) microarray test. This test is a targeted mutation analysis for the following variants with the GJB3 gene: c.421A>G (rs74315320), c.421_423delATT, c.538C>T (rs74315319), c.547G>A (rs74315318), and c.667C>A.

Component

  • GJB3 gene targeted mutation analysis

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • Find

Scale

  • Doc

Method

  • Molgen

Related names

  • Blood; CX31; DFNA2; DFNA2B; Document; EKV; Finding; Findings; gap junction protein, beta 3, 31kDa; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • CX31
  • DFNA2
  • DFNA2B
  • Document
  • EKV
  • Finding
  • Findings
  • gap junction protein, beta 3, 31kDa
  • Genetics
  • Heredity
  • Heritable
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Mut
  • Mut Anl
  • Mutations
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue