Is there a biorepository that a patient can have their samples delivered and have someone test them for rare diseases when no common disease definition quite fits their profile?
There are several biorepositories that store specimens (usually blood) from people with well described diseases that can be used by researchers to study these diseases. For multiple sclerosis one of the larger research biorepositories is run by the Accelerated Cure Project.
There are many companies and universities that test biological specimens (eg.blood) for various diseases but the testing is not done randomly. You can either test for suspected diseases, if such a test exists, or you can investigate for a rare disease with the assistance of a specialist physician (e.g. a neurologist for a neurological disorder) usually working with a medical geneticist.
Revere (Rip) Kinkel MD
Director of the Multiple Sclerosis Program
Professor of Clinical Neurosciences
University of California San Diego