The Division of Genetics provides diagnostic, management and genetic counseling services to pediatric and adult patients.
Our active laboratory and clinical research programs emphasize molecular and biochemical approaches to the understanding of major human genetic disorders. Current research includes studies on the role of dopamine-receptor genotypes in relation to food preference in obese and lean individuals.
Both our Cytogenetics and Molecular Genetics Laboratory and the Robert Guthrie Biochemical and Molecular Genetics Laboratory provide laboratory services for patients seen in the division, including the diagnosis of chromosomal abnormalities and inborn errors of metabolism, respectively.
Our Cytogenetics and Molecular Genetics Laboratory completes 1,700 chromosome analyses annually, including 1,000 from prenatal diagnostic cases.
The Guthrie laboratory performs more than 5,000 metabolic tests each year and also provides ongoing amino acid monitoring of patients with aminoacidopathies.
Our research group has received grants totaling $2.5 million to investigate the genetics behind statin-induced myopathies.
Services we provide include familial cancer risk assessment; genetic evaluation, diagnosis, treatment and management of genetic disorders and inborn errors of metabolism; and genetic counseling for reproductive/prenatal genetics.