Gene Access (CF, SMA & FXS)

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.

Australian clinical guidelines (RANZCOG & RACGP)1,2 recommend that doctors offer genetic carrier screening to every woman and couple who are planning or in the first stage of pregnancy, regardless of their risk factors.

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.

1. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) Guidelines.
2. The Royal Australian College of General Practitioners (RACGP) Guidelines.

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 autosomal recessive genetic condition that causes lung and gastrointestinal problems, affecting about 1 in 2,500 people. Approximately 1 in 25 people are carriers of CF.

SPINAL MUSCULAR ATROPHY (SMA)

SMA is an autosomal recessive inheritedneuromuscular disease historically associated with high morbidity and mortality, affecting about 1 in 6,000 people. Approximately 1 in 35 people are carriers of SMA.

FRAGILE X SYNDROME (FXS)

FXS, an X-linked condition, is the most common inherited form of intellectual disability, affecting approximately 1 in 3,600 men and 1 in 6,000 women. Approximately 1 in 330 people are carriers of FXS.


TEST COST
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.

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
For positive cases (tested by Clinical Labs), Clinical Labs offers one genetic counselling session per couple at no cost. Any follow-up consultations, if necessary, will incur an out-of-pocket fee 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.