CarrierMatch™ Testing for Genetic Disorders
We all have the odd spelling mistake (technically known as a ‘mutation’) in some of our genes, it’s a normal occurrence amongst the 20,000 genes that make us who we are. We are therefore all healthy carriers of one or more genetic disorders that often never affect us, because we have another working copy of the gene to compensate. However, when both partners are carriers of the same ‘recessive’ condition, there is a 25% chance of having a child with that disorder.
Here at CRGH we offer the CarrierMatch™ service for 600 of the more common and severe genetic disorders, to identify carriers and more importantly, ‘carrier couples’, for these particular conditions. A carrier couple is one in which both partners carry a mutation in the same gene.
This information can allow carrier couples to access tests and treatments that will help them avoid the tragedy of a child being diagnosed with a life limiting genetic disorder, before it ever occurs.
The CarrierMatch™ test also includes some mutations that occur on the X chromosome for example, muscular dystrophy. ‘X-linked’ conditions occur when a woman is a healthy carrier, but passes on the faulty gene to a son, who then develops the condition. For women who are found to be carriers of an X-linked condition, they can take action to avoid having an affected son.
How is the CarrierMatch™ test done?
You will have an appointment with our specialist Genetic Counsellor to review your family history and the details of the test. After that a simple blood test will be performed to give us a sample of your DNA for the test. After 4 weeks you will receive your results by email, including a copy of the lab report and an explanation of the implications of the results in straightforward layman’s terms. Further Genetic Counselling appointments are available by request, to discuss results, if required.
What are the benefits?
PREVENTION: By knowing if you are at risk, you can make informed choices about tests or treatments that may help you to avoid the disease occurring in the next generation
INFORMATION: Knowledge of carrier status can allow you to inform other family members, and your future children, of the possibility that they may also be carriers.
COST EFFECTIVE: Next Generation DNA Sequencing technology (called NGS) allows us to test for a far greater number of genes than has ever been possible before using a single blood test.
Who should consider the CarrierMatch™ test?
Anyone planning to start a family, whether by conceiving naturally, or with the help of fertility treatments, who wants to increase the chance that they will have a healthy baby.
Are there any limitations of the test?
- The CarrierMatch™ test does not fully sequence all of your genes, only the 600 on our panel. There is still therefore a risk that you could be a carrier of another rare gene that is not on the panel.
- There is a small risk that a person could carry a mutation in one of the 600 genes, that the test method cannot detect.
- The test does not look for genes that cause ‘dominant’ genetic disorders.
If you would like to book an appointment with one of our doctors you can: