Expanded Genetic Carrier Screening
Many of us are carriers of recessive genetic conditions and simply don’t know it. Being a carrier means that you inherited a normal gene from one parent and a gene with an irregularity, also called a mutation, from the other. For recessive conditions, if you have one normal copy of a gene, you typically don’t have any symptoms.
Patients who wish to conceive using donor sperm will automatically undertake genetic carrier screening if their donor is a carrier of a recessive genetic condition. Reproductive carrier screening is a simple saliva or blood test that can determine if you and your donor are carriers of the same condition. If you are, this increases the chance of having an affected child.
Although carrier screening can be done anytime, it is best to be tested before falling pregnant. Your carrier status doesn’t change, so the screening is only required once
What does carrier screening test for?
Common Recessive Conditions:
Carriers of recessive conditions are typically healthy and show no signs of the condition. However, if both reproductive parents are carriers of the same condition, there’s a one-in-four chance their children could inherit it (see image below). Cystic fibrosis and spinal muscular atrophy are the most common examples of these recessive conditions.
We can also test for recessive conditions on the X chromosome in females. These have a slightly different inheritance pattern (see the image below). The most common example of this is a condition called fragile X syndrome.
We'll choose the panel that matches your donor's test
We have two providers of expanded carrier screening - the Foresight Expanded Carrier Screen by Myriad Genetics and the Beacon Expanded Carrier Screen by Sonic Genetics. Once you have selected a donor, our Donor Coordinator will give you instructions on how to order the test most suited to your choice of donor:
Foresight Expanded Carrier Screen (Myriad Genetics):
- Our donor coordinator will give you a Flinders Fertility clinic code which you will quote to Myriad when ordering your test.
- A Myriad representative will contact you to explain how the test works and provide you with other relevant information.
- You will receive a saliva kit in the mail to collect your DNA. There will also be a pre-paid postage bag to ship your sample to the laboratory for analysis.
- Flinders Fertility will receive a copy of your results in a few weeks. We will contact you to discuss the results and let you know if you can proceed with your chosen donor.
- Myriad will contact you to book your free genetic counselling. Flinders Fertility strongly recommends counselling if you or your donor are a carrier.
Beacon Expanded Carrier Screen (Sonic Genetics)
- If the Beacon test is more appropriate for you, our Donor Coordinator will send you a test request form. This is a blood test and can be done at any pathology collection centre of your choice.
- We will receive a copy of your results in a few weeks. We will contact you to discuss the results and let you know if you can proceed with your chosen donor.
- Sonic Genetics unfortunately does not provide free counselling, however, we will advise you on how to book a session with a suitably qualified genetics counsellor. There is a cost of $110 for this.
The different panel costs are outlined below. Fees are per person and may be charged in USD or AUD depending on the provider.
|Foresight Expanded Carrier Screen (Myriad Genetics)
|Beacon Expanded Carrier Screen (Sonic Genetics)