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