Frequently Asked Questions

What is Genetic Carrier Screening?

Genetic carrier creening involves a simple blood test that provides you with information regarding your risk of having a child with a genetic condition, such as cystic fibrosis.

Do I need a doctor’s referral for Genetic Carrier Screening?

Yes, you will need a referral from either your GP or obstetrician for any of the Genetic Carrier Screening blood tests offered by Clinical Labs. We welcome and accept all pathology request forms.

Can my partner be tested for CF and SMA at the same time as me?

Partner testing will not be covered by Medicare if it occurs before or at the same time as testing of the woman and will incur an out-of-pocket cost of $350.

Carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS) is 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 by Medicare once in an individual’s lifetime.

Clinical Labs’ expanded carrier screening options, Comprehensive and Ashkenazi Jewish Carrier Screening, are not covered by Medicare. Testing of both the patient and partner will incur an out-of-pocket cost. Please click here for current pricing.

Is Comprehensive Carrier Screening a follow-up test for Gene Access (CF, SMA, and FXS) screening?

Comprehensive Carrier Screening is beneficial for patients with a family history of a specific condition or for individuals who want an expanded assessment of their risk of having a child with a genetic condition in addition to the conditions covered by Medicare (CF, SMA, & FXS). Comprehensive Carrier Screening is not a follow-up test for Gene Access (CF, SMA and FXS) screening. Click here for more information about Clinical Labs’ Comprehensive Carrier Screening test.

Is blood testing preferred over saliva testing for Genetic Carrier Screening?

Blood samples are preferred, as blood typically contains more DNA than saliva. DNA extraction results demonstrate that blood samples may yield a greater quantity of higher-quality DNA compared to saliva samples. The amount and quality of extracted DNA will reduce the chances of test failures and the need for sample recollection.

This is particularly important for certain types of genetic testing, such as when testing for genetic mutations associated with reproductive genetic carrier screening.

Why should I consider Genetic Carrier Screening?

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.

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

How much does Genetic Carrier Screening 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.

Our Comprehensive Carrier Screening costs $595 - no Medicare rebate is available. Partner testing is also $595.

Our Ashkenazi Jewish Carrier Screening costs $330 - no Medicare rebate is available. Partner testing is also $330. .

When should I be tested?

Ideally, screening is performed prior to conception to offer greater reproductive choice. Early detection is important as it allows more time for counselling and provides greater reproductive options for those at risk. With carrier screening for CF, SMA, and FXS being bulk-billable, you can discuss the testing with your GP at your next routine appointment, alongside other prenatal screening tests.

I don't have a family history. Do I still need to get tested?

As 90% of carriers for genetic conditions do not have a family history, Australian clinical guidelines recommend that every woman or couple who are either planning or in the first stage of pregnancy be offered testing regardless of their risk factor.

Where can I go for my carrier screening test?

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.

When will my results be available?

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.

For our Comprehensive Carrier Screening results will be with your referring doctor 7-9 weeks after the receipt of your blood sample at our lab.

For our Ashkenazi Jewish Carrier Screening results will be with your referring doctor 7-10 business days after the receipt of your blood sample at our lab.

What if I'm a carrier for a genetic condition?

If your results confirm that you are a carrier for a genetic condition, your doctor will recommend screening your partner for that specific condition to assess your overall risk as a couple of having a child with the genetic condition.

Is genetic counselling available?

For positive cases (tested by Clinical Labs), Clinical Labs offers one genetic counselling session per couple at no cost upon your doctor’s request. 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.