Genetic testing

Genetic carrier screening gives individuals and couples information about their risk of having a child with a genetic condition. Three common inherited genetic conditions are Cystic Fibrosis (CF), Fragile X Syndrome (FXS) and Spinal Muscular Atrophy (SMA).

Many people are carriers of CF, FXS and SMA even though they do not have anybody in their family who has the condition. These conditions are not usually diagnosed during routine pregnancy testing, and a baby may be born with one of these conditions despite having a normal pregnancy and no family history.

A blood or saliva test can determine whether you or your partner are carriers for many genetic conditions including CF, FXS and SMA.
Medicare will BULK BILL standard GCS test for CF, FXS and SMA.

An extended genetic carrier screening test is available to look at up to 307 genes. The test is NOT covered by Medicare or Private Health Insurance. If an abnormal gene is identified, it may be recommended for the other partner to also do the test. However, if both reproductive partners have test at the same time the reproductive partner can be charged at the reduced price.

The test results on average take 14 days. For couples at risk of having an affected child, genetic counselling is recommended.

Additionally, it may be possible to test for these conditions through genetic testing of embryos (in IVF), or in the first trimester of pregnancy.

Please see link below to view information regarding genetic carrier screening.

Everything you need to know : Carrier Screening

Contact Dr Nicole Hope
IVF & Fertility Care, Melbourne

8 am–5 pm

except public holidays

03 9890 1811
Dr Nicole Hope consults at
the following locations:
Box Hill
Suite 17
28–32 Arnold Street
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Latrobe Medical Centre
920 Plenty Rd
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Newlife IVF
245 Clayton Road
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