Sydney Genome Diagnostics

The Sydney Genome Diagnostics (SGD) services within the Western Sydney Genetics’ Program (WSGP) offers a state-wide service for comprehensive testing in clinical Cytogenetics and Molecular Genetics.

See more about their research on the Kids Research website.

Cytogenetics services

The Cytogenetics lab provides an accredited service for all types of chromosome abnormalities. It is organised into four major sub-sections, covering:

  • Karyotype chromosome testing for Blood (Constitutional) and Bone Marrow (Oncology) samples
  • FISH/Molecular Cytogenetics testing
  • Microarray testing (molecular karyotyping) for postnatal referrals and prenatal diagnosis
  • Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) for rapid prenatal aneuploidy screening and molecular (RT-PCR) testing for reciprocal translocations diagnostic of soft tissue tumours (biopsy specimens only).
  • See our Cytogenetics lab page

Molecular Genetics services

The Molecular Genetics lab provides an accredited service for the molecular diagnosis of a wide range of genetic disorders. The laboratory uses a number of molecular genetics techniques including Sanger sequencing and massively parallel sequencing. These services are extended to all states and where requested to other countries. 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.
  • See our Molecular Genetics lab page

Nucleic Acid extraction Unit

A separate Nucleic Acid extraction Unit (NAU) within SGD supports both of the Cytogenetics and the Molecular Genetics labs through both automated and manual DNA extractions and DNA storage from blood samples and various tissue types. The NAU also provides support for the rest of the WSGP and some clinical research facilities within The Children's Hospital at Westmead through their DNA extraction and DNA send-away services.

Last updated Friday 2nd February 2024