A Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome screening test
Genetic carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS) is now Bulk-Billed* for women who are pregnant or planning pregnancy.
If you are found to be a carrier for CF or SMA, your partner can then be tested for that specific condition to determine your risk as a couple of having a child with CF or SMA. The test for each condition is covered once in an individual’s lifetime.
Gene Access (CF, SMA & FXS)
Our Gene Access Carrier Screening involves a simple blood test that provides you with information regarding your risk of having a child with cystic fibrosis, spinal muscular atrophy, or fragile X syndrome.
CYSTIC FIBROSIS (CF)
CF is a severe genetic condition that causes lung and gastrointestinal problems, affecting about 1 in 2,500 people. Approximately one in 25 people are carriers of CF.
SPINAL MUSCULAR ATROPHY (SMA)
SMA is an inherited neuromuscular disease historically associated with high morbidity and mortality, affecting about 1 in 6,000 people. Approximately one in 35 people are carriers of SMA.
FRAGILE X SYNDROME (FXS)
FXS is the most common inherited form of intellectual disability, affecting approximately 1 in 3,600 men and 1 in 6,000 women.
TEST COST
From 1st November 2023, carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS) will be bulk-billable for women who are pregnant or planning pregnancy. If you are found to be a carrier for CF or SMA, your partner can then be tested for that specific condition to determine your risk as a couple of having a child with CF or SMA. The test for each condition is covered once in an individual’s lifetime.
TESTING LOCATIONS
After you have had a discussion with your doctor about genetic carrier screening and have a referral, you can visit any of our 1,300 Clinical Labs collection centres located throughout Australia for your test; there is no need to book. We welcome and accept all pathology request forms. For locations, visit clinicallabs.com.au/location.
RESULTS
Results for Gene Access (CF, SMA, and FXS) Carrier Screening will be with your referring doctor 5-7 business days after the receipt of your blood sample at our lab.
GENETIC COUNSELLING
Positive cases are offered one genetic counselling session per couple at no cost upon your doctor’s request. For FXS, only pre-mutation and full mutation cases are offered genetic counselling.
*Subject to Medicare eligibility criteria.
For Frequently Asked Questions about Genetic Carrier Screening, CLICK HERE.