Pediatrics Genetics Research & Lab
Research Activities
Faculty in our division are currently engaged in research in the areas of:
- Angelman syndrome
- Prader-Willi syndrome
- Turner syndrome
- Skeletal dysplasias
- PKU
- Homocystinuria
- Organic acidurias
- Disorders of fatty acid oxidation
- Fabry disease
- Gaucher disease
- Mucopolysaccharidoses
Patient Education
Cytogenetics Laboratory
Our laboratory offers:
- Diagnostic cytogenetic testing including chromosome analysis, fluorescent in-situ hybridization studies, and assay CGH analysis
- Biochemical and molecular testing through the Biochemical Genetics Laboratory and Molecular Diagnostics Laboratory
- Wide range of specialized tests provided by reference laboratories