Cystic Fibrosis Associated congenital Bilateral Absence of the Vas Deferens

Sometimes CFTR variants cause CBVAD without typical CF symptoms, requiring testing.

Test description

The majority of men with cystic fibrosis (CF) have associated congenital bilateral absence of the vas deferens (CBVAD). This abnormality is associated with cystic fibrosis transmembrane conductance regulator (CFTR) variations leading to classic presentation of CF. Patients may however, still have CFTR variants without the classic CF symptoms, whilst still having CBVAD.¹

_{1 Sokol, RZ (2001). Infertility in men with cystic fibrosis. Curr. Opin. Pulm. Med. Nov; 7(6):421-6.}

Test information

Test name

Cystic Fibrosis

Clinical indication

For the investigation of male fertility

Gene(s)

CFTR

Method

Allele-specific PCR fragment size analysis

Turn around time

2 weeks

Medicare eligibility

Yes – criteria apply 73345

Price

$190 if not Medicare eligible

Test request form

Standard pathology request form

Sample type

Blood

Collection type

6mL EDTA tube

Special instructions

Must be specialist referred to be MBS-eligible