THROMBOPHILIC PANEL FACTOR II – FACTOR V – MTHFR (6 VARIANTS)
Why get tested?
The test is indicated both for diagnostic purposes in individuals who have been deaf or hard of hearing since birth for no known reason, and in the preconception setting for family members of affected individuals, partners of individuals with hearing loss, or couples in the general population who wish to assess their reproductive risk.
What the variants cause
The test investigates the two main genetic causes of non-syndromic hereditary hearing loss: it analyzes variants throughout the entire GJB2 gene (Connexin 26) and screens for the D13S1830 deletion in the GJB6 gene (Connexin 30).
What the variants cause
Mutations in the GJB2 and GJB6 genes disrupt the production of connexin 26 and 30 proteins, which are essential for the proper functioning of the inner ear, leading to congenital deafness. In most cases, the condition is inherited in an autosomal recessive pattern: when both parents are healthy carriers (approximately 2–4% of the population), there is a 25% risk with each pregnancy of having an affected child.
How is the test administered on?
The test involves a blood draw from which genomic DNA is extracted. The analysis includes direct sequencing of the GJB2 gene (CX26/FULL) and/or targeted detection of a deletion in the GJB6 gene (CX30/DEL).
Turnaround Times
Results in approximately 15 business days.
Sensitivity and specificity
Analytical sensitivity and specificity greater than 99% for the regions and variants studied.