IllnessHearing loss, sensorineural, type 1
Summary
Short information
Guideline-curated single gene sequence analysis (GJB2 gene) plus deletion analysis (GJB6 gene) 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)
- (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
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
H90.-
Bioinformatics and clinical interpretation
No text defined