The process for patients with rare diseases

We would be delighted for you to get involved.

For rare diseases you are eligible to take part if:

  • You do NOT already have a genetic diagnosis for your condition and
  • You have one of the rare diseases listed in the eligibility criteria.

If your condition is not on the current list, it may be included in the future. The list will be regularly updated by Genomics England.

Your hospital doctor and NHS clinical care team will be happy to talk through the process with you.

For an overview of the process please click here.