Fast, accurate diagnosis of rare genetic disorders.
About our Genomics service
NSW Health Pathology is a world leader in genomics, the study of a person’s complete set of genes.
We perform more than 80,000 genetic and genomic tests a year giving new insights into:
- rare genetic diseases
- infectious diseases caused by pathogens.
Our Genomics service:
- offers Whole Exome Sequencing (WES) for rare disorders
- performs gene panel testing for rare cancers and tumour profiling
- tracks the origins, mutations and spread of infectious organisms that cause disease.
Our internationally-recognised, highly-skilled genetic pathologists and scientists are developing faster, more efficient tests for an ever-expanding range of genes. This is crucial to how we can help prevent or treat hereditary conditions such as cancer and heart disease.
We are trialling ways genomics can improve patient care and the health of our communities.
NSW Health Pathology
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