prepair™ carrier screening test
Overview
prepair is a test that determines if an individual or couple are at risk of having a baby with cystic fibrosis, fragile X syndrome or spinal muscular atrophy. These three conditions have serious health consequences and are some of the most common recessive conditions found in the general population.
For the cystic fibrosis component, we screen for 175 cystic fibrosis transmembrane conductance regulator (CFTR) variants and 178 in diagnostic tests. View the full list of CF variants.
Category
Cost
$389
Medicare eligibility for cystic fibrosis component
Patients may be eligible for a Medicare rebate, if:
- they present with symptoms of cystic fibrosis or CFTR* related disorder
- they have a close family history of cystic fibrosis (second cousin or closer)
- their reproductive partner is a carrier of cystic fibrosis
- their fetus shows ultrasonic evidence of echogenic gut.
For more information about eligibility or item numbers, please refer to the Medicare Benefits Schedule Book, 1 April 2019 (page 1171-1172) or contact us to discuss.
Reporting time
prepair carrier screening results usually available in 2 weeks.
prepair+ expanded carrier screening results available in 5-6 weeks.
Contacts
P: 1300 118 247
E: [email protected]
Screening Programs Genetic Counsellors:
P: (03) 9936 6402
Specimen Requirements
EDTA blood 4 ml or saliva sample
Notes
Blood Storage Requirements: Do not freeze. Store at 4°C.