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