About Baystate Medical Genetics
Our team provides comprehensive, compassionate genetic testing, diagnosis, treatment, and counseling services for patients of all ages, from babies through adults. We are the only full-service genetics center in western Massachusetts.
Our Genetic Testing
We work with patients to test for the full range of genetic conditions. You or your child may receive a referral to us for:
- Abnormal newborn screens
- Autism
- Birth defects (e.g., cleft lip/palate)
- Chromosomal disorders, such as Down syndrome or 22q11.2 deletion
- Growth concerns
- Heart concerns, such as hypertrophic cardiomyopathy
- Intellectual disability or developmental delays
- Metabolic disorders, such as phenylketonuria (PKU) or lysosomal storage disorders
- Neurological disorders
- Neuropathies and muscular dystrophies
- Other genetic syndromes, such as, Beckwith-Wiedemann, Noonan syndrome, neurofibromatosis, and Marfan syndrome
Our Genetic Treatments
We offer therapies for several genetic conditions, such as:
-
Achondroplasia
- Fabry disease
- Phenylketonuria (PKU)
- Pompe disease