Genetic Services


ResearchMany indications exist for genetic counseling and evaluation. Referrals are especially recommended in the following situations:

  • A personal or family history of a genetic disorder
  • Evaluation of developmental delay, intellectual disability, and/or birth defects
  • Carrier testing due to specific ethnic backgrounds (e.g., Ashkenazi Jewish, French-Canadian, Mediterranean, African American, etc.) or consanguinity
  • A previous child with a birth defect or developmental delay
  • A personal history of multiple miscarriages
  • The risk of recurrence of a genetic disorder
  • The treatment or care of a genetic disorder
  • Personal and/or family history of a hereditary cancer predisposition

Special expertise in the diagnosis and management of connective tissue disorders including:

  • Ehlers-Danlos Syndrome
  • Marfan Syndrome
  • Loeys-Dietz Syndrome
  • All disorders with aneurysms
  • All genetic disorders at any age

To schedule a genetics evaluation/counseling appointment, please call 617-492-7083. We request that pertinent medical records be faxed to 617-492-7092 prior to appointments.