Getting your genetic test results

It can take around six months to get the results from the genetic panel test. This is because it is such a complex process and there are careful checks throughout to ensure accuracy.

If you've been waiting a long time for your results, it doesn't mean there's anything to worry about, but just highlights the complexity of the process. If you’re concerned that it seems a particularly long time, you should contact the department who arranged the testing to ask for an update.

When the results are ready, your audiology clinician will make arrangements to give the result to you.

The test will give one of the following outcomes:

• No genetic cause was found. This doesn’t necessarily mean that your child’s deafness is not genetic. There may be a change in a gene that hasn’t yet been identified or couldn’t be checked in the testing. Gill’s story illustrates this situation.
• There’s a clear genetic cause. Your clinician will be able to give you an overview of the gene involved and what it means for your family, but they may refer you for a genetic counselling appointment to discuss the result in more detail. You can also request this referral if you have additional questions.
• There’s a genetic variant or variants, but it’s uncertain if that gene is the cause. In this situation, your clinician may refer you for genetic counselling or to another team or specialist to try and clarify what the result means. They may also suggest additional testing (for example, of other people in the family).
• There’s a genetic cause that might have extra health implications. The clinician will discuss this with you, arrange for any further checks that might be recommended and may refer you for a genetic counselling appointment.

If you’re not referred for genetic counselling, do ask at this appointment who you can talk to if you have questions in the future. Many parents find that they only think of the questions they wanted to ask after their appointment.

Here are some common questions parents have. You may want to print this page to take along to a further appointment, such as with the clinical genetics team.

• What tests did we have? (Some parents say they are not clear what tests were performed, so you may need to ask about this explicitly.)
• How accurate or certain is the test result?
• Can I request further tests?
• Does my test result rule out any causes of deafness?
• Can the samples taken for testing be re-examined in the future?
• What does a genetic cause of deafness mean in terms of managing my child’s deafness or health?
• What does a genetic cause of deafness mean for my child’s future? What about for my family’s future?
• What does it mean if we didn’t get a clear result?
• If we or other members of our family have now been identified as having a syndrome, what does that mean for us? Who should we talk to about it?
• If my child tests negative for a certain syndrome, does that mean other members of my family definitely don’t have it as well?

If all the investigations into the cause of your child’s deafness, including the standard genetic testing, are clear, this is an inconclusive outcome. It may mean current knowledge and available tests are not able to identify one specific cause for your child’s deafness. In this case, a clinical genetics appointment may not be able to give you more insight into possible causes at this time. However, your audiology clinician may refer your child onto a clinical genetics service if the family history or other signs or health problems still suggest a genetic cause as further specialised testing may be possible.

Julie’s story

Julie shares her experience getting her son Joshua’s test results back.

“The initial phone call where they revealed the results only lasted around 10 minutes, but the geneticist was very helpful and left me with her contact details with the option to phone back with further questions at any time.

“After researching the condition myself, joining support groups and speaking to another parent whose child had the same condition (who our audiologist kindly put us in touch with), I asked for a further conversation and the geneticist then put around an hour aside to chat with me and my husband. This was really helpful and we were very grateful for this opportunity.

She’s also been extremely supportive since by answering any questions I’ve emailed over very promptly and putting me in touch with a genetic counsellor to discuss my options to test for the same condition in my unborn baby when I fell pregnant again.”