Clinical Genetics

Yale Clinical Genetics is committed to providing excellent clinical care for adults and children in a setting that values compassion, collaboration, and respect for individuals and families.

Five clinical genetics physicians certified by the American Board of Medical Genetics provide state of the art genetic services including diagnosis, evaluation, counseling, and management for genetic and congenital conditions. The clinical team includes genetic counselors, APRNs, a genetic nutritionist and newborn screen nurse.

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.

Under the direction of Michele Spencer-Manzon, MD, Yale is engaged in two important collaborative clinical research projects.

• Urea Cycle Disorders Consortium - this consortium is engaged in research in the incidence, outcome, and treatment of inherited disorders of ammonia metabolism. For more information please Dr. Spencer-Manzon.
• Phenylketonuria: Response to Phenoptin - this consortium is engaged research in the response of phenylketonuria to supplementation with tetrahydrobiopterin. Enrollment for the current trial is closed, but inquiries about the next protocol are welcome. For more information, contact Nurse Coordinator, Brittany Holmes, APRN.