### Note: we anticipate a Medicare item number for 3-condition carrier screening to arrive 1st November. We'll provide additional information closer to the date.



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

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

> 90% of carriers have no known family history 

This information is intended for health professionals. [View information](/prepair-carrier-screening/) for a general audience. 


prepair carrier screening

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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.’


:footnote[1. Ropers HH. On the future of genetic risk assessment. Journal of community genetics. 2012 Jul 1;3(3):229-36.]  
:footnote[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.]  
:footnote[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](/tests/prepair-carrier-screening/) >

**Step 1**  
Discuss _prepair_ carrier screening options with your patients. Complete the relevant test request form.  
- [_prepair_ 3 form](https://www.vcgs.org.au/api/media/MGF162-prepair3-TRF/)
- [_prepair_ 500+ or 1000+ form](https://www.vcgs.org.au/api/media/RGF-042-prepair-500-1000-TRF.pdf)  

**Step 2**  
**Saliva** option: patients can [order their saliva kits and pay ](/prepair-carrier-screening/#test-options) for testing online.  
**Blood** option: patient can visit an [affiliated collection centre ](https://collection-sites.vcgs.org.au/) 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 >](/tests/prepair-carrier-screening/) 