CarrierScreen Icon What Is CarrierScreen?

Most of us are carriers of at least one genetic condition.1 While many individuals are healthy and have no known family history, there is still a risk of passing an inherited condition on to children.

Carrier screening is a type of genetic carrier test that determines whether you carry a gene alteration linked to specific inherited diseases. Carriers typically do not show symptoms, and in many cases, there is no known family history.

However, if both partners are carriers of the same condition, there is a risk of having a child affected by that condition.

What is CarrierScreen?

CarrierScreen offers inherited disease screening and recessive gene testing, helping individuals and couples better understand their reproductive risk.

Carrier screening can be done:

Before pregnancy (preconception genetic testing)

Before pregnancy (preconception genetic testing)

During pregnancy

During pregnancy

This allows individuals and couples to make informed decisions about family planning.

Who can Benefit from Carrier Screening?

Clarify potential genetic risks

Clarify potential genetic risks prior to starting a family to empower informed decisions.

Stratify risk in high-risk populations

Stratify risk in high-risk populations (e.g. Ashkenazi Jewish).

Ensure gamete donors and recipients are matched

Ensure gamete donors and recipients are matched accurately to minimise genetic risks.

Reduce emotional and financial burden

Reduce emotional and financial burden associated with unexpected genetic conditions.

Benefits of CarrierScreen

Natural Conception

Natural conception with an option of prenatal testing, such as amniocentesis or chorionic villi sampling, for the specific condition

In vitro fertilisation (IVF)

In vitro fertilisation (IVF) with preimplantation genetic testing (PGT)

Use of a sperm or egg donor

Use of a sperm or egg donor who is not a carrier for the condition

Adoption

Adoption

How CarrierScreen Works

Requested by a Healthcare Professional

CarrierScreen must be requested by a healthcare professional

Genetic Counselling

Genetic counselling is strongly recommended before testing

Test Requisition Form

The Test Requisition Form (TRF) must be completed and submitted

Invoice Issued

An invoice is issued by Next Biosciences

Collection Kit Is Couriered

A saliva collection kit is couriered to you for testing

Sample Collected

Once completed, the sample is collected and sent to the laboratory

Results Available

Results are available in approximately 3–4 weeks

Discuss Results

Results are sent to your healthcare provider, who will discuss them with you

Understanding Your CarrierScreen Results

If you are identified as a carrier, your partner or donor may need testing

Both Partners

If both partners are carriers of the same recessive condition:
There is a 25% (1 in 4) chance of having an affected child per pregnancy

X-Linked Conditions

For X-linked conditions:
There may be up to a 50% chance of having an affected child

Not Both Carriers

If both partners are not carriers of the same condition:
The risk is significantly reduced

Speak to a Genetic Counsellor

Speak to a Genetic Counsellor

Understanding your results and next steps is important when considering carrier screening in South Africa.

Ask your healthcare provider about CarrierScreen

Contact our genetics team

Frequently Asked Questions

Find answers to common questions about Carrier Screening:

Carrier screening is a genetic carrier test used to identify whether you carry genes linked to inherited diseases.

Ideally before pregnancy as part of preconception genetic testing, but it can also be done during pregnancy.

Testing usually starts with one partner. If they are identified as a carrier, the other partner may be tested.

No. Many individuals who undergo inherited disease screening have no known family history.

A saliva sample is collected using a home testing kit.

Results are typically available within 3–4 weeks.

No. Results are sent to your healthcare provider, who will discuss them with you.

It is strongly recommended to help you understand your results and options.

Yes. Results from recessive gene testing can guide decisions such as preimplantation genetic testing (PGT).

No test can eliminate risk entirely, but it significantly reduces the likelihood for the conditions tested.

Regulatory and Partnership Information

Next Biosciences is an authorised distributor of Natera’s Horizon Test in South Africa.

This content has not been reviewed or endorsed by Natera, Inc. Next Biosciences is responsible for maintaining content in line with partnership guidelines and South African regulatory requirements.

Accreditations include CAP accreditation, ISO 13485, and CLIA certification.

© 2024 Natera, Inc. All rights reserved.

References

  • Bell et al. Sci Transl Med. 2011;3(65):65ra4