Oncology Genetics

We offer a comprehensive service for the diagnosis and monitoring of a wide range of haematological malignancies including AML, ALL, CML, MPN, MDS, myeloma and lymphoproliferative disorders.  Testing incorporates the use of cytogenetic, FISH and molecular techniques including Next Generation Sequence analysis as appropriate.

Follow-up monitoring of disease status for patients with a haematological neoplasm where an acquired genetic abnormality has previously been identified is available. This includes RQ-PCR monitoring of the major and minor BCR-ABL1 transcript types, as well as screening for BCR-ABL1 tyrosine kinase domain mutations.

We also perform chimerism analysis for monitoring of haematopoietic stem cell transplants. The percentage of donor cells in a recipient’s blood or bone marrow sample is determined by short tandem repeat (STR) or FISH analysis.

The laboratory is one of six nationally that perform minimal residual disease (MRD) testing for ALL in children and young adults using patient-specific real-time quantitative assays.

The results of testing are submitted and discussed within the context of HODS (Haemato-Oncology Diagnostic Service) and form part of the integrated pathology report, feeding directly into the regional clinical multidisciplinary team for patient management.

We offer a wide-ranging pharmacogenetics service including targeted NGS testing for non-small cell lung cancer (NSCLC). This is supplemented by ALK/ROS1 FISH and rapid, targeted EGFR mutation testing on circulating tumour DNA extracted from blood plasma for relapsed NSCLC patients or for those for whom a surgery at diagnosis is not an option. For tumours such as melanoma and colorectal cancer, we provide both targeted NGS and rapid digital PCR BRAF mutation assays. For breast cancer we undertake HER2 FISH for patients with primary and metastatic disease where IHC testing has proven equivocal.

We also offer rapid germline DPYD genotyping for polymorphisms which cause dihydropyrimidine dehydrogenase (DPD) deficiency as a pre-screen test in those patients due to start fluoropyrimidine-based chemotherapy.

We provide a full cytogenetic service for both FFPE-embedded tissue and ‘fresh’ tumours. This includes but is not limited to; FISH testing for diagnostic and predictive biomarkers in diseases such as lymphoma, sarcoma and uveal melanoma and karyotype analysis of paediatric tumours.