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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHearing loss, sensorineural, type 1

Request form illness

Summary

Short information

Guideline-curated GJB2 gene sequencing plus GJB6 deletion analysis according to the clinical suspicion sensorineural deafness type 1

ID
SS0010
Number of genes
2 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
  • Oral mucosa (at least 2 swabs)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GJB2681NM_004004.6AD, AR, digenisch
GJB6786NM_006783.5AD, AR, digenisch

Informations about the disease

Clinical Comment

includes also Orphanet# 90636

Perceptive deafness (neurosensory origin associated with the inner ear) rather than conductive deafness (anomalies in the amplification of sound waves between the middle ear - tympanum and auditory ossicles + the outer ear); AD forms are very early onset + bilateral hearing loss with varying degrees of severity (ranging from mild to profound); in developed counties, 60-80% of early-onset hearing loss are genetic in origin

 

Synonyms
  • Alias: AD isolated neurosensory deafness type DFNA
  • Alias: AD isolated neurosensory hearing loss type DFNA
  • Alias: AD isolated sensorineural deafness type DFNA
  • Alias: AD isolated sensorineural hearing loss type DFNA
  • Alias: AD non-syndromic neurosensory deafness type DFNA
  • Alias: AD non-syndromic neurosensory hearing loss type DFNA
  • Alias: AD non-syndromic sensorineural hearing loss type DFNA
  • Alias: AR isolated neurosensory deafness type DFNB
  • Alias: AR isolated sensorineural deafness type DFNB
  • Alias: AR non-syndromic neurosensory deafness type DFNB
  • Alias: AR non-syndromic sensorineural deafness type DFNB
  • Alias: Deafness, hearing impairment
  • Alias: Nicht-syndromale Hörstörung
  • Alias: Schwerhörigkeit, Hörverlust, Taubheit
  • Allelic: Bart-Pumphrey syndrome (GJB2)
  • Allelic: Ectodermal dysplasia 2, Clouston type (GJB6)
  • Allelic: Hystrix-like ichthyosis with deafness (GJB2)
  • Allelic: Keratitis-ichthyosis-deafness syndrome (GJB2)
  • Allelic: Keratoderma, palmoplantar, with deafness (GJB2)
  • Allelic: Vohwinkel syndrome (GJB2)
  • Deafness, AD (GJB2)
  • Deafness, AD 3B (GJB6)
  • Deafness, AR 1A (GJB2)
  • Deafness, AR 1B (GJB6)
  • Deafness, digenic GJB2/GJB6 (GJB6)
Heredity, heredity patterns etc.
  • AD
  • AR
  • digenisch
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined