Western Sydney Genetics Program

The Western Sydney Genetics Program at The Children's Hospital at Westmead provides a comprehensive and integrated medical genetics service, comprising:

• NSW Biochemical Genetics
• NSW Newborn Screening Program
• Department of Clinical Genetics
• Sydney Genome Diagnostics
• Genetic Metabolic Diseases

The Program provides outreach services to the Greater Murray, Central West and Hunter Health Regions, as well as statewide clinical services for Huntington disease, neurofibromatosis, connective tissue dysplasia, lysosomal storage disorders and other inborn errors of metabolism. Statewide laboratory services for newborn screening and biochemical genetics are also provided.

The Clinical Genetics Department and Genetic Metabolic Disorders Service are involved with other departments of the Hospital to provide joint management clinics for patients with limb deficiencies, lysosomal storage disorders, connective tissue disorders, neuromuscular disorders and Rett syndrome.