prepair carrier screening

Carrier screening is relevant to everyone, regardless of ethnicity or family history.

Genetic carrier screening is available to individuals and couples who are considering, or are in early pregnancy. Screening allows individuals and couples to determine their chance of having children with an inherited genetic condition.

90% of carriers have no known family history

Carrier screening is relevant to anyone pregnant, or planning a pregnancy. Our data show that:

1 in 20 individuals is a carrier of cystic fibrosis, fragile X syndrome or spinal muscular atrophy
90% of carriers have no relevant family history.

Collectively, these conditions are common. In our experience:

1 in 240 pregnant couples were found to have an increased chance of a child with CF, FXS or SMA
1 in 1000 had an affected pregnancy.

Professional guidelines from The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) state

‘…information on carrier screening for other genetic conditions should be offered to all women planning a pregnancy or in the first trimester of pregnancy.’

1. Ropers HH. On the future of genetic risk assessment. Journal of community genetics. 2012 Jul 1;3(3):229-36.
2. Archibald AD & Smith MJ, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine. 2018 May;20(5):513.
3. McClaren BJ, & Metcalfe SA, et al. A case for cystic fibrosis carrier testing in the general population. Medical Journal of Australia. 2011 Feb;194(4):208-9.

	prepair 3	prepair 500+	prepair 1000+
Conditions/genes included	cystic fibrosis (CF); fragile X syndrome (FXS); spinal muscular atrophy (SMA)	Over 500 genes	Over 1000 genes associated with 750 conditions
How long does it take?	2 weeks^	6-8 weeks	5-6 weeks^
How much does it cost?	$389 (partner testing is free if required)	Approx $1200 / couple	$2200 / couple

^ from when samples are received in the lab

See more detailed prepair test and specimen information >

Step 1
Discuss prepair carrier screening options with your patients. Complete the relevant test request form.

Step 2
Saliva option: patients can order their saliva kits and pay for testing online.
Blood option: patient can visit an affiliated collection centre to have blood collected. Patients will receive an SMS link to make payment.

Step 3
Results will be sent to the requesting practitioner.

See more detailed prepair test and specimen information >