The Biochemical Genetics Laboratory utilizes state-of-the-art instrumental methods to diagnose and monitor patients with inherited metabolic diseases, including disorders of amino and organic acid metabolism as well as fatty acid oxidation.

The Cytogenetics Laboratory performs chromosome analysis, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (array CGH) on cells prepared from a wide variety of tissues including amniotic fluid, chorionic villi, products of conception, peripheral blood leukocytes, bone marrow, lymph node, and skin/muscle biopsy.

The Medical Genomics Laboratory provides molecular genetic testing in common and rare hereditary disorders (either in a presymptomatic, diagnostic, or prenatal setting).

The Metabolic Disease Laboratory provides services for the diagnosis of lysosomal storage diseases, the screening of urine for glycosaminoglycans, and enzyme studies for the diagnosis of all of the mucopolysaccharidoses.