Deafness autosomal dominant 3A DFNA3 (GJB2 gene – entire)
Analysis ID 298
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Deafness autosomal dominant 3A DFNA3 (GJB2 gene – entire)
OMIM #601544
Clinical information Non-syndromic hearing loss or deafness, DFNA3, is characterized by an early-onset, progressive, moderate-to-severe sensorineural hearing loss. Affected individuals have no other accompanying disorders.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected into ETDA tube; DNA sample
Analyzed genes GJB2; gap junction protein beta-2
Analysis description Analysis consists of sequencing of the coding region of the GJB2 gene
Analysis indication Congenital or unexplained deafness or hypoacusis.
Analysis time 3 – 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders