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 and whole genome 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. 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) analysis.

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 are the NEYGLH next generation sequencing analysis (NGS) and reporting specialist centre for breast cancer, lung cancer, cholangiocarcinoma and endocrine cancers. We also offer targeted NGS for non-small cell lung cancer, and for the detection of somatic BRCA variants in ovarian and prostate cancer patients to determine eligibility for PARP-inhibitor therapy.

We offer rapid germline DPYD genotyping for polymorphisms which cause dihydropyrimidine dehydrogenase (DPD) deficiency in patients due to start fluoropyrimidine-based chemotherapy.

Other services include copy number analysis for prognostication in uveal melanoma, whole genome sequencing for CNS and paediatric cancers and FISH.