Deafness, autosomal dominant 9
Analysis ID 187
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Deafness, autosomal dominant 9
OMIM #601369
Clinical information Isolated non-syndromic hearing loss is a disorder in which deafness is not associated with other accompanying features. Some forms of non-syndromic deafness, particularly DFNA3, involve changes in both the inner and the middle ear. Such a combination is called mixed hearing loss. COCH is the causative gene for DFNA3.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes COCH
Analysis description Analysis consists of exon 3 sequencing of the COCH gene
Analysis indication Deafness
Analysis time 3 - 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics