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.
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.
Counseling and neurologic assessment of family members at risk for or affected with Huntington disease, presymptomatic testing and counseling, interpretation of laboratory testing, arrangement for follow-up. Huntington Disease Society of America approved presymptomatic testing center.
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.
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.
Prenatal Diagnosis Services include state-of-the-art comprehensive prenatal diagnostic testing and screening. We are a team of medical geneticists and genetic counselors who work in collaboration with Maternal Fetal Medicine specialists providing expert advice and care in both routine and complex situations. For more information, click here.
Outreach Genetic Services
Outreach genetic consultation clinics in Connecticut: Prenatal genetics clinics at Yale New Haven Hospital-Saint Raphaels