The Molecular Genetics Laboratory is service within the Sydney Genome Diagnostics (SGD) services based at The Children's Hospital at Westmead (CHW). We provide an accredited service for the molecular diagnosis of a wide range of genetic disorders. Areas of specific expertise include testing for:

• Aortopathies (Marfan syndrome and related disorders)
• Osteogenesis imperfecta
• Surfactant protein disorders
• Renal disorders
• Autoinflammatory disorders (Familial Mediterranean Fever, TRAPS, CAPS) and
• Epileptic encephalopathies

The laboratory uses a number of molecular genetics techniques including Sanger sequencing and massively parallel sequencing. A separate Nucleic Acid extraction Unit (NAU) within SGD supports both of the Molecular Genetics and the Cytogenetics labs through both automated and manual DNA extractions and DNA storage from blood samples and various tissue types.

These services are extended to all states and forms part of both the CHW Division of Laboratory Services and the Western Sydney Genetics Program.