Analysis ID 127
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness DEAFNESS, DFNB1
Clinical information Defects in the GJB2 gene lead to the most common recessive form of isolated congenital deafness (DFNB1).
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 Analysis of the second most common Polish mutation in the GJB2 gene - 310del14 (313del14 according to the former nomenclature)
Analysis indication Analysis should be performed when heterozygous 35delG mutation is not found or is identified in a heterozygous state.
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics