Cystic Fibrosis

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

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: 73350, 73347, 73346
For the investigation of male fertility (CBVAD): 73345

Price

$190 if not covered by Medicare

Test request form

Standard pathology request form

Sample type

Blood

Collection type

6mL EDTA tube

Special instructions

Test description