Patient Care

Clinical genetics

Diagnosis of chromosomal abnormalities, congenital malformations, mental retardation, and developmental delay, dysmorphic syndromes, connective tissue disorders, skeletal dysplasias, inherited neurologic disorders. Cytogenetic and molecular genetic testing and interpretation of results.

Cardiac genetics

Inherited cardiomyopathies, congenital heart disease associated with syndromes, Marfan syndrome, molecular testing and risk assessment for family members. Collaborative clinical assessment with pediatric cardiology; arrangement of assessment with adult cardiology.

Inborn Errors of Metabolism/Biochemical Genetics

Diagnosis, management and clinical care for patients with inborn errors of amino acid, organic acid, fatty acid metabolism and mitochondrial disorders. Newborn screening follow-up and assessment with rapid laboratory assessment and collaborative management with primary care physicians. Lysosomal storage disorders diagnosis and management with enzyme replacement. Molecular genetic testing with assessment of family members at risk.

Neurofibromatosis

Diagnosis and multi-system clinical assessment. Molecular genetic testing. Coordinated ongoing care and anticipatory guidance with collaboration of multiple specialists in neurology, surgery, dermatology, renovascular disease, orthopedics, ophthalomology and oncology for both adults and children.