Our Programs

Inborn Errors of Metabolism Program

We diagnose and care for people with amino acid, organic acid and fatty acid metabolism disorders and mitochondrial disorders. We provide newborn screening follow-up and assessment 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 presymptomatic 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