Patients & Public

Patients living with a rare genetic condition, and their “at risk” relatives, may be referred to a clinical genetics service for genetic testing by their GP or other health care professional to obtain a genetic diagnosis.  Further information can be found on the Genetic Alliance UK website.

The UKGTN database of test services lists the genetic tests offered by member laboratories for diagnosing over 600 genetic conditions.  All these tests have been through the UKGTN evaluation process providing valuable reassurance that the information provided is reliable.

There are several patient umbrella groups and organisations that you can contact for further information and support.