Molecular Genetic Testing
Azoospermia (Congenital Bilateral Absence of Vas Dference, CBACD)

Indication and Diagnostic Value

Male infertility can be caused by CBAVD. Aberrations within the cystic fibrosis gene are the cause for CBAVD in 60 – 80% of all cases. Affected individuals will transmit the abberation to their children with a likelihood of 25%. Most patients do not show symptoms of cystic fibrosis (negative sweat test). A genetic test is indicated when a clinical suspicion exists for azoospermia, or a family background for cystic fibrosis, or azoospermia can be shown.

Only those males are affected who carry either the 5T variant on both alleles (homozygous carriers), or who carry the 5T allele and one additional CFTR mutation on the second allele. Spouses of affected individuals are urged to undergo genetic diagnosis to determine the risk of transmission of CBAVD or cystic fibrosis onto the next generation.

Samples and Test Method

IMMD blood stain test paper is required.

The PCR based test detects a polythymidine sequence in intron 8 (5T variation) which is characteristic for CBAVD, and the most common 32 mutations of the CFTR gene. To this end the Oligo-Ligation-Assay from Abbott is used. Mutations are detected unambiguously by using an ABI sequencing device.

Turnaround time for this test is 2 weeks. ©2007
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