Oncology Genetics

test tubes

Head of Section – Rebecca Pollitt  0114 271 7012

Cytogenetic, FISH and molecular tests are offered as part of the diagnosis and management of acute leukaemia, chronic myeloproliferative disorders, myelodysplastic syndromes and for a number of specific solid tumours (including sarcomas) and lymphomas.

The Oncology section is made up of two broad service groups covering Haemato-Oncology, and Solid tumours and Pharmacogenetics.

For further information, including a full list of available testing, please refer to our Full A-Z List of Genetic Tests (PDF). If you do not see the test you are interested in, please do not hesitate to contact us directly as bespoke testing can be considered.


Haemato- oncology

We offer a comprehensive service for the diagnosis and monitoring of a wide range of haematological malignancies using cytogenetic, FISH and molecular techniques as appropriate.

Testing incorporates diagnosis and monitoring of AML, ALL, CML and other MPN, MDS, myeloma and lymphoproliferative disorders. 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.

Chimerism analysis for monitoring of haemopoietic stem cell transplants is also available. 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.


Lymphoid disease
Olivia Dillon – 0114 271 7019

Myeloid disease
Mike Dyson – 0114 271 7019
Emma Shearing – 0114 271 7009
Kate Garrard – 0114 305 3641

Monitoring and re-evaluation
Josh Willoughby – 0114 271 7284
Mike Spiller – 0114 271 7019

ALL MRD testing
James Blackburn – 0114 271 7284

Solid tumour and pharmacogenetics

We currently perform routine targeted NGS testing for non-small cell lung cancer, melanoma, colorectal cancer, GIST and gliomas.

ALK/ROS1 FISH testing on paraffin sections to detect rearrangements in non-small cell lung cancer is also performed routinely, as is rapid evaluation of the HER2 status of breast cancer patients. HER2 testing is usually performed on IHC 2+ cases, although the service can be extended to test any tumour sections where HER2 positivity may be suspected.

We also offer a karyotyping service for all solid tumours, or if more appropriate, targeted FISH for the common diagnostic and prognostic chromosomal changes in adult and paediatric tumours.


Solid tumours and pharmacogenetics
Abigail Whitworth – 0114 271 7019
Rebecca Bastock – 0114 271 7009
Mark Watson – 0114 271 7021

For information on our Hereditary cancers services, please visit our Constitutional Genetics page.

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