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Molecular Pathology

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comprehensive specialised molecular oncology

Providing predictive, germline & somatic mutation analyses.

At nexomics we offer state-of-the-art molecular pathology services on multiple high-throughput test platforms that can interrogate RNA, DNA, ctDNA and protein from a large number of samples simultaneously.

We provide clinicians with a personalised and user friendly reporting that outlines the genomic findings and patient treatment options.

Our team regularly partners with collaborators to design clinical grade tumour specific assays to support patient care and clinical research with an emphasis on exploratory biomarker studies within small and large scale clinical trials.

Quantitative PCR (qPCR)

Quantitative PCR (qPCR) plays a critical role in cancer diagnosis and monitoring by detecting and quantifying specific genetic changes associated with cancer. It's valued for its high sensitivity, speed, and ability to detect very low levels of abnormal DNA or RNA in patient samples.

Droplet Digital™ PCR (ddPCR™)

Droplet Digital™ PCR (ddPCR™) offers highly sensitive nucleic acid detection and precise quantification. It excels in identifying low-abundance targets, such as allelic or structural variants, which are often undetectable by other platforms. With its advanced multiplexing capabilities, ddPCR technology enhances the analysis of multiple targets per well while maintaining high performance.

Oncomine Precision Panel (OPA)

Cutting-edge testing leverages minimally-invasive liquid biopsy technology to detect and monitor tumour-specific biomarkers in blood providing early cancer detection, monitoring treatment effectiveness, detecting recurrence, identifying genetic variants to guide targeted therapies and tracking of tumour evolution and resistance to treatment.

Unlock Precision Oncology with the Ion Torrent Genexus System

This next-generation solution delivers rapid, comprehensive genomic profiling, detecting critical biomarkers like EGFR, ALK, BRAF, ROS1, NTRK, RET, and ERBB2 from FFPE tissue or liquid biopsy specimens.

  • Mutation, CNV, and fusion variant types across 50 genes including EGFR, ALK, BRAF, ROS1, RET, KRAS, PIK3CA.
  • Compatible with FFPE tissue as well as liquid biopsy samples.

Familial Cancer Predisposition

Comprehensive genetic testing to identify inherited mutations linked to cancer pre-disposition syndromes. Empowering clinicians and patients with actionable insights, our testing supports risk assessment, preventive strategies, and personalised care for hereditary cancers.

The following clinically focussed gene panels:

In addition to our genepanels, we offer targeted predictive, confirmatory and segregation testing forknown familial variants as well as origin of variant (germline v somatic)testing for variants detected in tumour samples.

  • Ovarian
  • Prostate
  • Pancreas
  • Breast, Ovarian,Prostate and Pancreas
  • Colorectal andEndometrial
  • Mismatch Repair (MMR)
  • Polyps
  • Renal
  • Paraganglioma,Pheochromocytoma & GIST
  • Pituitary
  • Melanoma
  • Gorlin Syndrome
  • Facial PapuleSyndrome
  • Schwannomata’s
  • Sarcoma
  • Haematological Malignancy Predisposition
  • Endocrine

Molecular Oncology

Advanced somatic testing focuses on identifying tumour-specific mutations, enabling precise tumour profiling and targeted therapy selection. Our state-of-the-art capabilities provide critical data for personalised cancer treatment and clinical trial enrolment.

Utilising our Thermo Fisher Ion Torrent Genexus System we offer formalin-fixed paraffin-embedded (FFPE) tissue testing using the Oncomine Precision Assay (OPA). The OPA includes mutation, CNV, and fusion variant detection across 50 key genes (including EGFR, ALK, BRAF, ROS1, RET, KRAS, PIK3CA, and ERBB2):

  • Melanoma
  • Colorectal
  • NSCLC
  • GIST
  • Breast
  • Thyroid
  • Brain
  • Ovarian HRD/HRR
  • Sarcoma

Molecular Haematology

Supporting integrated haematology diagnostic solutions for blood cancers, including leukaemia, lymphoma, and myeloma.

Led by Associate Professor Piers Blombery, the Wilson Centre for Blood Cancer Genomics at Peter Mac provides accredited comprehensive genomic testing for patients with blood cancer to uncover the molecular characteristics of their cancer and improve diagnosis, treatment and outcomes.

Nexomics, through our partnership with the Department of Pathology and the Wilson Centre for Blood Cancer Genomics at Peter Mac, can offer a range of haematological assays including comprehensive DNA (80 gene) and RNA (71 gene) NGS panels as well as a Myeloproliferative Neoplasm (MPN) specific 22 gene NGS panel. In addition, we offer the following testing.

  • Adaptive clonoSEQ IGH/IGK/IGL MRD
  • IGHV Somatic Hypermutation (SHM)
  • FLT3-ITD & TKD (non-quantitative)
  • NPM1 (non-quantitative)
  • t(9;22) BCR: ABL1 (p210, p190 fusion transcripts)
  • NPM1 MRD (Type A/B/D)

"Pathology considers each patient as unqiue - and through advanced genomic testing we can identify specific changes indicative of the cancer type: its diagnosis, prognosis and optimal therapies likely to benefit the individual patient."

Professor Stephen Fox, Director of Pathology | Deputy Director, Collaborative Centre for Genomics Cancer Medicine

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Comprehensive Genomics Profiling