Yale is one of only two academic medical centers in Connecticut offering genetics services. We care for patients with a variety of genetic and congenital conditions, providing diagnosis, evaluation, counseling, and management. We perform chromosome and molecular genetic testing in dedicated laboratories, and interpret the results so that patients can easily understand them.
Some of the conditions we diagnose include:
Intellectual developmental disorder
Dysmorphic syndromes (such as Down syndrome, Fragile X syndrome, Turner syndrome)
Connective tissue disorders
Skeletal dysplasia (dwarfism)
Inherited neurological disorders
Congenital heart disease associated with such syndromes as Marfan syndrome
Our team includes genetic counselors, APRNs, a genetic nutritionist, and a newborn screen nurse. We frequently collaborate with pediatric and adult specialists in cardiology, neurology, surgery, dermatology, renovascular disease, orthopaedics, ophthalmology, and oncology. We also work closely with colleagues at Yale’s Cardiovascular Genetics Program, neurogenetics section, maternal-fetal medicine section, fertility center, and Smilow Cancer Genetics and Prevention Program.
Yale scientists were first to perform a clinical diagnosis by genome-scale DNA sequencing. They are now using this technology to identify genetic disease in undiagnosed patients, as well as pinpoint the causes of some cancers.
Yale Genetics directs two laboratories:
The Cytogenetics Laboratory provides complete analysis for chromosome abnormalities in prenatal, clinical, and cancer genetics. Innovative techniques that employ molecular cytogenetics and genomic analysis are now integral diagnostic and prognostic tools that we use in a variety of settings.
The DNA Diagnostics Laboratory provides molecular diagnostic testing for a variety of genetic diseases. Next-generation DNA sequencing is performed, allowing comprehensive diagnosis of gene mutations that cause disease. New genetic diagnostics provide sequencing of whole gene exomes for analysis.
Combined clinic for patients with genetically based cardiovascular disease
Sequencing of all genes, including whole-gene exome sequencing
Genetic counseling available to patients and families upon diagnosis, which includes interpreting and providing direction for complex results, addressing psychosocial issues, and providing access to support services
Newborn screening services include follow-up appointments, rapid laboratory assessment, and collaborative management with primary care physicians
On-site DNA, cytogenetics, and biochemical testing ability
Specialty clinic for patients with Down syndrome and metabolic disorders.
Inborn Errors of Metabolism Program
We diagnose and care for patients with amino acid, organic acid, and fatty acid metabolism disorders and mitochondrial disorders. We provide newborn screening follow-up and assessment care, and rapid laboratory testing, working closely with primary care physicians to manage these disorders. We diagnose and manage lysosomal storage disorders with enzyme replacement. We also provide molecular genetic testing and assessment of family members at risk.
Huntington Disease Program
We provide counseling and neurologic assessment of family members at risk for or who have Huntington disease. We are a Huntington Disease Society of America-approved pre-symptomatic testing center. We also interpret laboratory results and arrange for follow-up care.
Prenatal Genetic Diagnosis Program
We provide state-of-the-art comprehensive prenatal diagnostic testing and screening. Our team of medical geneticists and genetic counselors works in collaboration with maternal-fetal medicine specialists to provide expert advice and care in both routine and complex situations.