In this section
Genetics and genomics
- About medical genetics
- Programs and services
- Genomic Medicine Program
- Hereditary Disorders of Connective Tissue Program
- Lysomal Storage Diseases LSD Program
- Neurofibromatosis and RASopathy Program
- Phenylketonuria PKU Program
- Undiagnosed and Rare Disease Program
- Additional resources
- Patient stories
- Become a patient
- Genetic contact us
- Locations
- Our specialists
- For medical professionals
Specialty programs and services
If you or your child have been diagnosed elsewhere, or you suspect a genetic condition, we can help. We offer a variety of specialized programs and services to diagnose, evaluate and treat children (and sometimes adults) with genetic conditions, including:
- General genetics
- Chromosomal abnormalities
- Evaluation of developmental delays/failure to thrive/birth defects
- Skeletal dysplasias
- Known or suspected genetic disorders
- Genomic Medicine Program
- Hereditary Disorders of Connective Tissues (HCT) Program
- Metabolic Program
- Lysosomal Storage Diseases (LSD) Program
- Mitochondrial disease
- Newborn Blood Screening Follow-up Program
- Nutrition management of metabolic disorders
- Phenylketonuria (PKU) Program
- Other known or suspected metabolic disorders
- Neurofibromatosis (NF) and RASopathy Program
- Chorionic villus sampling (CVS)
- Whole genome sequencing
- Preimplantation Genetic Diagnosis (PGD) Program
Collaboration
Our Genetics and Genomics Program collaborates with specialties throughout our hospital, including:
- Cleft Lip and Palate Program
- Craniofacial Program
- Cystic Fibrosis Program
- Hemophilia Program
- Muscular Dystrophy Program
- Sickle Cell Program
Make an appointment
To make an appointment, call our Central Scheduling team or request an appointment online.