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Rady Children's Specialists

Genetics / Dysmorphology

Conditions Treated

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.