Improved detection of CFTR variants by targeted next-generation sequencing in male infertility: a case series

Research question Congenital bilateral absence of vas deferens (CBAVD) is characterized by ‘obstructive azoospermia’ in male patients with primary infertility. In the routine clinical workup of infertile men, patients with an absence of vas deferens are screened for CFTR variants. However, current genetic testing panels do not cover all variants, missing some CBAVD cases. Here, CFTR testing was explored by targeted next-generation sequencing...