Many 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. |