Cancer genetics - hereditary risk
Familial mutation testing
If a cancer-predisposing mutation has been identified in your family, this test gives you a definitive answer about your own inherited risk, so you can act on it.
Overview
What this test is
When a genetic mutation that raises cancer risk is found in one family member, their biological relatives may carry the same variant. This test determines, with precision, whether you do.
Familial mutation testing is not a broad cancer screen. It is a highly targeted analysis. A customised sequencing assay developed specifically to detect one known variant in your family’s genetic history. It is the most efficient, cost-effective, and clinically actionable starting point for at-risk relatives of a confirmed mutation carrier.
Who it's for
This test is right for you if
- A parent, sibling, or close relative has been confirmed to carry a hereditary cancer mutation
- Your family has a documented history of a specific cancer type with a known genetic cause
- You want to know your personal inherited risk before making medical or lifestyle decisions
- Your clinician has recommended cascade testing following a family member's diagnosis
To process this test, we require a copy of the index patient’s genetic report – the original report confirming the familial mutation. This ensures our assay is designed with clinical precision to detect the exact variant in question.
How it works
From sample to answer
01
Provide the family mutation report
Before testing begins, a copy of the index patient's confirmed genetic report must be submitted. Our laboratory uses this to develop a highly specific sequencing assay targeting the exact familial variant.
Required before sample collection
02
Sample collection
A blood sample collected in an EDTA tube by one of our registered phlebotomists - arranged at a time and location convenient to you. Saliva collection is also available as an alternative.
03
Targeted sequencing
A bespoke sequencing assay is developed and run against your DNA sample to determine whether the familial variant is present or absent. The assay is streamlined, efficient, and designed for rapid turnaround.
04
Results and counselling
Your result is a definitive confirmation - variant present or absent. A Genetix genetic counsellor will walk you through what your result means, what it doesn't mean, and what your options are going forward.
Your result
What the result tells you
Results are delivered as a definitive confirmation of variant presence or absence. There are two possible outcomes.
Variant detected
You carry the familial mutation
This does not mean you will develop cancer. It means your inherited risk is elevated, and that targeted surveillance, risk-reduction strategies, or further clinical assessment is recommended. Your genetic counsellor will guide next steps.
Variant not detected
You have not inherited the familial mutation
You do not carry the specific variant identified in your family. This is a meaningful and reassuring result. Note that this does not eliminate all cancer risk. It confirms you have not inherited this particular inherited risk factor.
Important scope note
- This test focuses exclusively on the one known familial variant. It does not screen for other genes or mutations beyond the specified change.
- It is not a broad hereditary cancer panel. If no index mutation has been identified in your family, a panel test such as the BrRCo panel may be more appropriate.
Sample requirements
What we need from you
Sample type
Blood (EDTA tube) or saliva collected by our registered phlebotomists
Index report
A copy of the index patient’s confirmed genetic report must accompany the sample
Collection
At a time and location convenient to you – we come to you
Technical information
How the test works
Bespoke sequencing assay
Once the familial variant is confirmed from the index patient's report, a targeted sequencing assay is developed specifically for that mutation. This approach is more precise, faster, and more cost-effective than running a full panel when the target variant is already known.
Customised per patient
Because the assay is built around the specific mutation in your family, it delivers a clear, unambiguous result - variant present or absent - without the interpretive complexity of a broad panel result.
Clinically validated
All testing is processed in a South African laboratory. Results are reviewed by our genetics team and delivered with direct counselling support - no result is issued without clinical context.
References
Osler TS, Schoeman M, Edge J, Pretorius WJS, Rabe FH, Mathew CG, Urban MF. Breast cancer genetic services in a South African setting: proband testing, cascading and clinical management. Cancer Med. 2025 Mar;14(5):e70743. doi: 10.1002/cam4.70743. PMID: 40042150; PMCID: PMC11881015.
Ready to find out your status?
Our team will guide you through the process - from submitting the index report to receiving your result. All testing is processed in South Africa, with counselling included.