Many individuals are unaware that they may carry genetic mutations for certain genetic disorders, as these mutations often don’t affect their own health but could impact their future children. Our Comprehensive Carrier Screening genetic test can help you and/or your partner identify whether either of you carries a mutation for a specific genetic disorder. Typically performed before pregnancy, this test is able to assess the risk of passing on certain genetic conditions to your children, enabling informed family planning decisions.
Until recently, Comprehensive Carrier Screening was only available by sending a sample overseas for testing. This was not only expensive, but accompanied by long turnaround times. We are proud to be the first company in South Africa to offer Comprehensive Carrier Screening to international standards. This test empowers South Africans to better understand their reproductive genetic profile and health status.
Learn More
Why should you proactively do carrier screening?
Couples or individuals who are aware of their carrier status are able to make informed decisions about family planning. A negative result can provide reassurance and peace of mind, alleviating concerns of passing on a genetic condition to your future children. In the case of a positive result, understanding the risks of passing on a specific disease to future children allows for consideration of various options. These may involve seeking genetic counselling to further understand the condition, its inheritance pattern, and potential implications. Exploring assisted reproduction options, such as preimplantation genetic testing, provides opportunities to minimise the risk of transmitting the condition. Additionally, engaging with support groups offers valuable emotional and informational support from others facing similar challenges.
Who's it for?
Carrier screening is recommended for individuals who are planning to have children, particularly those with: (1) a family history of genetic disorders, (2) an ethnic background with a high prevalence of a genetic disorder, and (3) a personal/family history of pregnancy loss or infertility. Given South Africa's diverse population and complex history, certain ethnic groups may have elevated rates of recessive genetic conditions due to factors like genetic ancestry, cultural practices, and geography. Examples include Ashkenazi Jewish, African, Mediterranean, Southeast Asian, Cape Coloured, and Afrikaner individuals. Testing is available to adults over 18, with special conditions for minors. Ultimately, the decision should involve consultation with a healthcare provider or genetic counsellor to assess risk factors and provide personalized recommendations. If one partner tests positive, it is recommended that the other undergo testing as well.
What is Carrier Screening?
We offer two tests
Entry Level Carrier Screening
- Screens 96 genes
- This is an entry level screen and covers most of the critical genes involved in development. Common examples include Fragile X syndrome, Cystic Fibrosis, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy.
Pricing
1 Person
R7 999
Couple
R9 999
Expanded Carrier Screening
- Screens for more than 600 genetic disorders including 96 in Entry Level Carrier's Screening.
- This test is aimed at people who have very rare mutations.
- This test is provided on request via your doctor or genetic counsellor.
Pricing (available on request)
1 Person
POA
Couple
POA
How it works
1. Fill in form
Fill in your demographics and consent form
2. Give your sample
Choose your collection point
3. Get results
Wait 6 weeks for results