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Genetics

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:

  • Chromosomal abnormalities
  • Congenital malformations
  • Intellectual developmental disorder
  • Developmental delay
  • Dysmorphic syndromes (such as Down syndrome, Fragile X syndrome, Turner syndrome)
  • Connective tissue disorders
  • Skeletal dysplasia (dwarfism)
  • Inherited neurological disorders
  • Inherited cardiomyopathies
  • Congenital heart disease associated with such syndromes as Marfan syndrome

Our Team

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.

Our Services

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.

Distinguishing Factors

  • 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.

Our Programs

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.

Our services include:

  • Chorionic villus sampling (CVS)
  • Amniocentesis
  • First trimester screening
  • Second trimester screening
  • Fetal blood sampling
  • Fetal tissue biopsy
  • Detailed ultrasound examination
  • Fetal karyotyping
  • Biochemical testing
  • FISH analysis
  • Molecular genetic analysis
  • Array comparative genomic hybridization (chromosomal microarray)
  • Carrier testing for cystic fibrosis, Fragile X syndrome, spinal muscular atrophy, sickle-cell disease and other blood disorders, Ashkenazi Jewish genetic diseases
  • Referrals to the Yale Medicine Fertility Center for in vitro fertilization, preimplantation genetic diagnosis
  • Supportive counseling