The test is offered both to couples in the general population who wish to assess their risk of being asymptomatic carriers prior to conception and to individuals with a positive family history or with male infertility issues (e.g., azoospermia due to CBAVD). It also allows for the confirmation of a suspected diagnosis in individuals with indicative clinical findings.

The test screens for the 139 most common and clinically validated mutations in the CFTR gene, which account for approximately 95.4% of the variants that cause cystic fibrosis.

Mutations in the CFTR gene cause the production of thick, viscous mucus that impairs the function of the respiratory, digestive, and reproductive systems. Since this is an autosomal recessive disorder (with a carrier frequency of approximately 1 in 27 people in the general population), when both parents are healthy carriers, there is a 25% risk with each pregnancy of having a child with the condition.

The test involves a blood draw from which genomic DNA is extracted. The analysis is performed using Next-Generation Sequencing (NGS) to specifically screen for the 139 variants defined by the CFTR2 database.

Results in 13 working days.