Sydney Genome Diagnostics – Cytogenetics and Molecular Genetics
The Sydney Genome Diagnostics (SGD) section within the Western Sydney Genetics’ Program (WSGP) offers a state-wide service for comprehensive testings in clinical Cytogenetics and Molecular Genetics.
The Cytogenetics section 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).
The Molecular Genetics section 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.
A separate Nucleic Acid extraction Unit (NAU) within SGD supports both of the Cytogenetics and the Molecular Genetics sections through both automated and manual DNA extractions and DNA storage from blood samples and various tissue types. The NAU section also provides support for the rest of the WSGP and some clinical research facilities within the CHW through their DNA extraction and DNA send-away services.