Diagnostic Genomics

Welcome to PathWest’s Diagnostic Genomics Laboratory.  We provide comprehensive genetic testing services to patients in WA public sector hospitals, patients in the care of private consultants and hospitals, as well as to genetic health practitioners elsewhere in Australia and overseas.

Genetics in medicine is a rapidly expanding and fast changing field driven by ongoing discoveries from the human genome project and advances in technology. We seek to continually improve the services we offer, particularly by taking advantage of updated technologies and equipment.

Since relocating into PathWest’s new facilities at the QEII Medical Centre, the laboratory is now well-place to provide an integrated cytogenetic and molecular genetic testing service that is responsive to the needs of contemporary patient care pathways.

The laboratory performs a comprehensive range of medical genomic tests ranging from identifying disease-causing changes in single genes to whole chromosome aneuploidy. Our integrated approach allows the most appropriate tests to be applied to each clinical application.

Our services include genetic diagnostic testing; predictive testing; carrier screening; prenatal testing for high-risk pregnancies and genotyping to predict responses to, or side effects from drugs; specialised support for PathWest’s haematological and solid tumour testing service, as well as a tissue banking facility for long-term storage of DNA and preserved cell lines.

Our services are compliant with the ISO 15189 and ISO 9001 Standards and NPAAC requirements, and are accredited by NATA, Australia’s Accreditation Service.  The laboratory participates in a number of external quality assurance schemes, including RCPAQAP, ASDGQAP​, UKNEQAS and the European Molecular Genetics Quality Network, which monitor our analytical and interpretative performance and ensure that our patients get the highest possible level of care.

We offer testing in the the following areas:

  • Prenatal Diagnosis and Reproductive Genetics
  • Familial Cancer
  • Developmental Disorders
  • Neurogenetics
  • Cardiac Genetics
  • Haematology and Oncology Genetics
  • Rare Diseases

For further information on any of the services provided please e-mail DiagnosticGenomicsQE.PathWest@health.wa.gov.au and your enquiry will be handled by the most appropriate person.

A full list of available genetic tests and information on sample requirements can be found in the PathWest Online Test Directory.  For information on genetic tests not offered by PathWest, visit our  Sendaway Testing page.

Further information on genetic testing and how it is used can be found at Lab Tests Online.
Contact Us
Phone: +61 (0)8 6383 4234
Fax: +61 (0)8 9346 4029
Please refer to our Key Contacts page for additional contact information.
Operating Hours
Monday-Friday 8.00am – 5.00pm
Please note we are closed on weekends and public holidays.
Samples may be received during our closing hours via PathWest’s Central Specimen Reception Area (CSRA).
If you have any feedback on our services, suggestions for improvements or complaints, please contact the laboratory on +61 (0)8 6383 4234 or email DiagnosticGenomicsQE.PathWest@health.wa.gov.au


Page last updated: 14 Aug 2020