Precision Diagnosis
Who is Eligible?
Undiagnosed patients with neurologic symptoms* and a high likelihood of genetic disease (e.g. dysmorphic features, positive family history, CNS malformation, distinctive phenotype)
AND
Prior genetic evaluation that is non-diagnostic or has resulted in variants of uncertain significance and included a minimum of one 1st tier genetic test (e.g. panel/array)**
Precision Therapy
Who is Eligible?
Patients diagnosed with neurologic symptoms* and a defined genetic etiology for which no standard therapy is available.
*Patients without neurologic symptoms may be considered upon special request
** Prior testing is not required if the patient is severely affected with a rare or distinctive phenotype, and delayed genetic testing is likely to negatively impact care.