DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Analysis ID 59
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
OMIM #220290
Clinical information Isolated (with no accompanying features) sensorineural deafness may be a genetic condition. Isolated hearing loss is in 70% caused by genetic factors. Deafness is caused by abnormal (lost) connexin 26 function, which is encoded by GJB2 gene. The symptoms begin in prelingwal period and deafness is usually profound.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes GJB2; gap junction protein beta-2
Analysis description Diagnostics of GJB2 gene includes initial prescreening to eliminate/confirm 35delG mutation. Analysis is based on AS-PCR method.
Analysis indication DEAFNESS
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics