Appointments are made only by a referral from a physician.  Physicians should call Children's Direct at 800.678.HELP (4357) to make a referral.
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All team members are boarded in clinical genetics and have extensive experience in rare disease diagnostics.  Team members collaborate with referring physicians to assure that appropriate testing (biochemical, genetic, neuropsychological/developmental or imaging studies) has been done to fully evaluate all aspects of the patient’s condition prior to proceeding with genomic investigation.

Undiagnosed Mendelian Disorders Clinic

Undiagnosed Mendelian Disorders Clinic