This service is designed for individuals or families who want to understand whether a health condition or set of symptoms may have an underlying genetic cause. It can also support those with a known family history of a rare inherited condition to understand what this may mean for them.
Rare disease genetic testing is designed for individuals and families seeking clarity when answers are difficult to find. It can help uncover underlying genetic causes, guide next steps, and provide reassurance or direction where uncertainty remains.
Please note: we do not make diagnoses of genetic conditions. Genetic testing for suspected inherited conditions requires relevant clinical information and/or supporting documentation from a treating specialist to guide appropriate testing. If you require a diagnosis to be made, we can signpost you to a consultant geneticist who may be able to help
If genetic testing is appropriate, this will be discussed with you during your consultation.
A comprehensive genetic analysis tailored to your clinical history, with expert interpretation and personalised recommendations.
The cost of your consultation will be applied towards the total cost of testing should you choose to proceed.
Our process is simple, supportive, and tailored to you. From your initial consultation through to results, we guide you every step of the way.
Choose a suitable time and complete a short clinical intake and consent form
A qualified genetic counsellor will review your personal and family history and discuss your situation in detail. If appropriate, testing options will be explained, including benefits, limitations, and possible outcomes. All counselling sessions will be followed up with a detail summary letter.
Genetic testing will be arranged, as appropriate, after providing informed consent.
Your genetic results will be reviewed by a qualified genetic counsellor. These will be delivered to you as agreed in the counselling session. If necessary, a follow-up call to discuss results in more detail can be arranged.
Gain a clearer understanding of whether your condition may have a genetic cause
Support further medical decision-making and referrals
Provide clarity where previous investigations may have been inconclusive
Identify whether additional support or specialist input may be appropriate
Our partner laboratories are accredited to the following international standards, ensuring quality, accuracy, and reliability in all genetic testing.
