Similar issues can be experienced when assisting a different pool of consultants, who are those referred in the context of infertility diagnostic investigations which often include CFTR analyses, especially considering that CFTR heterozygous carriers have a slightly higher probability of being infertile themselves [25] and even more so if a clinical diagnosis of CBAVD has already been made. The gene discussed is CFTR; the disease is congenital bilateral aplasia of vas deferens from CFTR mutation.