We care for adults and children in a setting that respects individuals and families. Our state-of-the art genetic services include:

  • Diagnosis
  • Evaluation
  • Counseling
  • Management of genetic and congenital conditions

We perform chromosome and molecular genetic testing in dedicated laboratories. We interpret the results so that you can easily understand them.

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 dysplasias (dwarfism)
  • Inherited neurologic disorders
  • Inherited cardiomyopathies
  • Congenital heart disease associated with such syndromes as Marfan syndrome

We work closely with colleagues at Yale Medicine’s Cardiovascular Genetics Program, Neurogenetics section, Maternal-Fetal Medicine section, Fertility Center and Smilow Cancer Genetics & Prevention Program.