School of Pathology and Laboratory Medicine

Next-Generation Sequencing

Massively parallel sequencing, or next-generation sequencing (NGS), technology allows the rapid and sensitive detection of genetic variants across the entire genome on a bench top instrument.


This approach is changing the way we categorise, treat and manage disease. NGS approaches such as targeted re-sequencing and whole-transcriptome sequencing are becoming an affordable genetic testing tool for the clinical laboratory allowing the detection of vast amounts of data in one test.

We are specifically using semi-conductor sequencing technology (Ion Personal Genome Machine) for targeted re-sequencing, microRNA sequencing, and RNA sequencing of cancer genomes.
We have enhanced the capability of targeted re-sequencing by designing custom sequencing panels that allow the large amounts of data provided by next-generation sequencing technologies to be more manageable for routine diagnostic testing. Our current custom panels include:

  • Melanoma Cancer Panel comprising primer pairs to amplify the coding regions of 40 genes implicated in melanoma
  • Myeloid Cancer Panel comprising primer pairs to amplify the coding regions of 120 genes implicated in blood cancers such as myelodysplastic syndrome, myeloproliferative neoplasms, transient abnormal myelopoiesis, acute myeloid leukaemia, chronic lymphocytic leukaemia, chronic myelogenous leukaemia, acute lymphocytic leukaemia, diffuse large B cell lymphoma, burkitt lymphoma and multiple myeloma.