Evaluation and Consulting

Our clinic offers clinical identification, biochemical and molecular diagnoses for LSDs and other genetic disorders. We conduct extensive genetic evaluations for complex medical problems of unknown etiology that do not fit a particular disease pattern.


Evaluation begins with an experienced physician who takes a detailed medical history and an extensive three-generation family history. A comprehensive physical exam, including detailed dysmorphology, and neurological examination, is followed by “traditional tier-wise” genetic testing and directed molecular or cytogenetic testing.