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