Division of Genetics and Genomics Clinical Genetics

Visit our Clinical Studies page to find out about studies in progress or enrolling.

The Clinical Genetics team at Boston Children’s Hospital provides comprehensive diagnostic services and genetic counseling to pregnant women, newborns, children and adults with a known or suspected genetic disorder. As one of the largest pediatrics genetics groups in the country, we have experience with both common conditions, such as autism and muscular dystrophy, and very rare conditions affecting just a few hundred children in the world.

Your geneticist and genetic counselor will work with you to determine the best tests for you or your child, and may suggest testing for other family members. Because many genetic disorders affect multiple organs in the body, our team can connect you with medical specialists across the hospital and follow you or your child over time. 

We offer particular expertise in metabolic disorders, congenital malformations, developmental disorders and chromosomal disorders. Click at left to learn more about our specialty programs. These multidisciplinary programs coordinate care across different medical departments and allow us to conduct studies aimed at finding new treatments.

In addition to the main hospital in Boston, we also see patients at our Brockton, Lexington, Norwood, Peabody, Waltham and Weymouth locations.

Diagnostic services and testing

  • prenatal diagnostic consultations for expectant families
  • clinical and laboratory diagnostic services for children and adults with known or suspected genetic disorders
  • testing of single or multiple genes
  • whole exome sequencing
  • in-depth testing for metabolic conditions
  • cytogenetic testing, including standard chromosomal studies and FISH analysis
  • chromosomal microarray analysis, including targeted deletion/duplication assays

Genetic counseling

  • interpretation of test results (ordered by our specialists or others)
  • review of the benefits, risks and limitations of prenatal diagnostic options, with referrals to appropriate centers
  • counseling for parents, future parents and, as appropriate, extended family members, to determine the chance that a child or a family member has a genetic disorder
  • assessment of the medical needs of those affected with a genetic disorder

Care coordination

  • referral to our specialty programs or to other specialty programs at Boston Children’s for medical care
  • ongoing follow-up and evaluation to ensure optimal care