Oncology Genetics

test tubes

Head of Section – Kath Smith 0114 271 7009

Cytogenetic, FISH and molecular tests are used in order to diagnose and manage patients with both inherited cancer, including an expanding number of hereditary and somatic mutation cancers, and acquired conditions such as acute leukaemia, chronic myeloproliferative disorder, myelodysplastic syndrome and other tumours.

The section is made up of four quadrants which relate to the patient pathway. These are Diagnostics & Prognostics (both acquired and inherited), Monitoring & Re-evaluation, Pharmacogenetics and Research & Market Development.

Further information about all tests can be found in our Full A-Z List of Genetic Tests (PDF).

Diagnostics & Prognostics

Acquired disease - Leukaemia genetics

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.

For a full list of our FISH probes please refer to our Full A-Z List of Genetic Tests (PDF).

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.

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

Abigail Whitworth(0114 271 7019)
Olivia Dillon (0114 271 7019)

Sarah Dell (0114 271 7019)

Acquired disease - Solid tumour genetics

We 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.

For a full list of our FISH probes 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.

We also offer somatic mutation testing of several genes involved in tumourigenesis for diagnostic, prognostic and treatment purposes. Please refer to the pharmacogenetics section for further details.

Sarah Hawtree (0114 271 7019)

Hereditary cancers

We offer Next Generation Sequencing and dosage analysis by MLPA (where necessary) for hereditary breast and ovarian cancer (BRCA1 & 2 genes) and colorectal cancer (HNPCC, FAP, MutYH genes).

Extended panels of an additional 13 genes associated with hereditary breast and ovarian cancer, an additional seven genes associated with hereditary colorectal cancer, a panel of genes for phaeochromocytoma/paragaglioma and a panel of genes for renal cell cancer are all currently in development.

View the Full A-Z List of Genetic Tests to see which genes/panels/FISH probes are available for testing or visit the Next Generation Sequencing (NGS) page for information about our live hereditary cancer NGS panels.

We also offer full gene sequencing and dosage analysis by MLPA (where necessary) for a range of inherited cancer syndromes including Li-Fraumeni, MEN1, MEN2A, MEN2B, FMTC, HLRCC, MCUL and WT1-related syndromes.

Microsatellite instability and BRAF p.V600E mutation testing on colorectal tumour samples is available to help differentiate sporadic CRC and hereditary HNPCC and can be used as a HNPCC pre-screen.

In addition a diagnostic service for autosomal dominant polycystic kidney disease (ADPKD) PKD1 and PKD2 genes is available.

Hazel Clouston (0114 271 7009)
Khalid Tobal (0114 271 7047)

Monitoring & Re-evaluation

Monitoring & Re-evaluation

The Monitoring & Re-evaluation Service provides follow-up monitoring of disease status for patients with a haematological neoplasm where an acquired genetic abnormality has previously been identified.

We provide follow-up karyotyping and/or FISH testing for previously diagnosed cytogenetic abnormalities. For BCR-ABL1 rearrangements we offer 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 a major role of this service. The percentage of donor cells in a recipient’s blood or bone marrow sample is determined by short tandem repeat (STR) or FISH analysis.

Mark Watson (0114 271 7019)
Sarah Hawtree (0114 271 7019)

ALL MRD testing

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.

James Blackburn (0114 271 7284)
Khalid Tobal (0114 271 7047)


Mutation analysis

We currently perform routine testing for the following:

  • EGFR mutation analysis for exons 18, 19, 20 and 21 in non-small cell lung cancer
  • BRAF (V600E) mutation analysis for metastatic melanoma and hairy cell leukaemia
  • KRAS mutation analysis for codons 12, 13 and 61 in metastatic colorectal cancer

On request these tests can be performed for other disease types, for example EGFR/BRAF and KRAS for lung cancer. We are also able to test for somatic mutations of PIK3CA and will shortly be offering NRAS testing.

FISH testing

We offer an ALK FISH test using the Vysis Abbot probe on paraffin sections to detect rearrangements of ALK in non-small cell lung cancer. This can be performed either as a stand-alone test or alongside EGFR mutation analysis.

We offer a rapid service for evaluation of the HER2 status of breast cancer patients. The test is performed on paraffin sections using a dual colour FISH probe to evaluate amplification status. This is usually on IHC 2+ cases although the service can be extended to test any tumour sections where HER2 positivity may be suspected.

Mike Dyson (0114 271 7019)

Research & Market Development

We are committed to the ongoing development of our integrated Oncology Services and have a continuing programme of service development and evaluation in order to best meet patient need, in line with clinical demand and technological change.

We are involved in a number of collaborations with both academic and commercial partners. Current projects include:

  • validation of oligo-CGH array testing for the detection of chromosomal aberrations in bladder transitional cell carcinoma
  • genetic investigation of plasma cell myeloma
  • extended genetic screening for breast and ovarian cancer
  • investigation of aberrations in NF-1 (Neurofibromin-1) in lung carcinoma

Contact: Kath Smith (0114 271 7009)

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