Enrolment to NIHR BioResource – Rare Diseases is very straightforward and can take place during a regular clinic appointment. We will ask you to complete a written consent form and provide a small blood sample (less than two tablespoons) or if you are unable to give a blood sample, a saliva sample. The blood or saliva will be used to provide a genetic analysis known as genotyping, and we will also need a health assessment related to your specific condition for phenotyping (your lifestyle, gender and age characteristics).
Your sample will then be labelled with a unique sample number before being sent to the laboratory for analysis. Research scientists studying the genetic information will not have access to any identifiable information, see the Confidentiality page for more information.
It is not planned to routinely feedback results from genetic tests, however if the research did identify a cause of the rare disease, with your permission we would let your clinical care team know. All research results that are identified will need to be confirmed in an accredited diagnostic laboratory before being used in the clinical management of you and your family.
If you have any questions, please email email@example.com for more information.