Pediatric Genetics Program
617-726-1561
About the program
The Pediatric Genetics Program specializes in the evaluation and care of pediatric and adult patients who may have health problems with a hereditary, genetic, or metabolic basis. These conditions include the care of a newborn baby with a physical difference at birth, a newborn with a metabolic condition detected by newborn screening, children or adults with developmental delay or autism, a pregnant person carrying a baby with a suspected genetic condition, or an adult with a family history or suspected diagnosis of an adult-onset genetic condition.
Part of Mass General Brigham for Children
Comprehensive range of services
Our staff includes physicians board-certified in clinical genetics and physicians trained in metabolism as well as genetic counselors and metabolic nutritionists with extensive experience treating a comprehensive range of indications including:
- Autism spectrum disorder and other neurodevelopmental syndromes
- Overgrowth syndromes such as Beckwith Wiedemann syndrome
- Chromosomal disorders such as Klinefelter Syndrome, Turner syndrome, Down syndrome, trisomy 18, trisomy 13, 22q11.2 deletion syndrome, and others
- Craniofacial differences such as cleft lip and palate or craniosynostosis
- Multiple congenital physical differences
- Skeletal dysplasias and other genetic causes for short stature
- Deafness/Inherited hearing loss conditions
- Lysosomal disorders
- Metabolic disorders
Our clinical team of physicians, genetic counselors, postgraduate physicians in training, and dieticians provide families with diagnosis, treatment, genetic counseling, and follow-up care in a supportive environment. Our state-of-the-art genetics laboratories and our participation in current research ensures patients receive the latest testing and treatment options.
Genetic disorders are chronic and, in some cases, life-threatening. In addition to the diagnosed individual, family members may be affected. Understanding the basis for these conditions helps families learn about possibility to have a child with a genetic diagnosis.
We are equipped to treat the whole family, from diagnosis to counseling and follow-up care. We have specialists who are trained in the diagnosis, genetic counseling and care of genetic conditions specific to each stage of life. Our care coordinator is available to help families navigate the multispecialty care that is often needed.
Genetic conditions and treatments
- Congenital Heart Defects
- 22q11.2 Deletion Syndrome in Children
- Mosaic Down Syndrome
- Turner Syndrome in Children
- Achondroplasia in Children
- Alagille Syndrome
- Glycogen Storage Disease
- Ehlers-Danlos Syndrome
- Rett Syndrome
- Differences of Sex Development (DSD)
- Neurocutaneous Syndromes
- Tay-Sachs Disease
- Clinical Genetic Testing
- Chromosome Analysis
- Chorionic Villus Sampling
- Newborn Metabolic Screening
- Newborn Screening Tests
- Types of Genetic Testing
- Cystic Fibrosis Sweat Test
- Fragile X Syndrome Test (Amniotic Fluid)
- Galactosemia
- Alpha-fetoprotein (AFP) Screening Test
- First Trimester Screening
Contact the Pediatric Genetics Program
617-726-1561
International Patient Services
Contact information for international patients