Diagnostic Genomics

PathWest Diagnostic Genomics department provides a comprehensive range of genetic and genomic testing services to WA public and private patients. Requests are also accepted from health practitioners elsewhere in Australia and overseas.

Genomics in medicine is a rapidly expanding field. We seek to continually enhance our services through taking advantage of expanding genomic knowledge, new technologies, and advances of translational research undertaken by the laboratory.

The laboratory performs a comprehensive range of cytogenetic and molecular genetic and genomic tests, ranging from targeted testing for specific disease-causing changes in single genes to genome-wide analyses at cellular or molecular level. Our integrated approach allows the most appropriate tests to be applied to each clinical application.

Our genetic/genomic testing services include germline and somatic diagnostic testing, predictive (pre-symptomatic) testing, carrier screening, prenatal testing for high-risk pregnancies, and genotyping to predict responses to or side effects from drugs. We also provide specialised support for PathWest’s 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  RCPAQAPASDGQAPUKNEQAS 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 following areas:

A full list of available genetic tests and information on sample requirements can be found in the 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.


Last Updated: 21/09/2022