Test description
Caused by inherited variations in the CFTR gene, depending on their number and type, a variety of clinical outcomes can be observed. These vary from being unaffected to severe lung and pancreatic disorders (CF) or milder effects such as male infertility, bronchiectasis or pancreatitis. This test is included in the Genetic Carrier Screen panel.
Test information
Test name
Cystic Fibrosis
Clinical indication
- Carrier Screening: testing of a prospective parent with no family history of cystic fibrosis for determination of the risk of having a child with cystic fibrosis.
- Carrier Testing for either:
- a relative of a person with a known CFTR pathogenic variant
- a reproductive partner of a person with a known CFTR pathogenic variant
- Diagnostic testing: for a differential diagnosis of a person with suspected CF
- For the testing of a pregnant patient and/or their partner in order to make or exclude a diagnosis of cystic fibrosis in the fetus.
- For the investigation of male fertility (CBVAD)
Gene(s)
CFTR
Method
Allele-specific PCR fragment size analysis
Turn around time
2 weeks
Medicare eligibility
Price
$190 if not covered by Medicare
Test request form
Standard pathology request form
Sample type
Blood
Collection type
6mL EDTA tube
Special instructions