Haemato-oncology tests

NewGene’s expertise and service delivery are also applied to the support of Haematology services with tests available for both blood based cancers and myeloproliferative diseases.

These tests are delivered in partnership with Blood Sciences, Newcastle Upon Tyne Hospitals NHS Foundation Trust.

Sample Type: 4.5ml EDTA blood

  • For Clonality: 2 µg of genomic DNA or formalin-fixed paraffin embedded tissue, cut curls or cytology slides

Reporting times: 10 days

BCR-ABL testing for patients with Chronic Myeloid Leukaemia

The diagnostic hallmark of chronic myeloid leukaemia (CML) is the presence of the Philadelphia chromosome which results in the fusion of the BCR gene on chromosome 22 with the ABL1 gene on chromosome 9. The gene fusion is detected using classical cytogenetic techniques.

Patients with CML are treated with the drug Imatinib, or a second generation tyrosine kinase inhibitor, at diagnosis. The treatment is highly effective however it is essential that any relapse in the disease is identified as soon as possible to ensure the best clinical outcome for the patient. As such the expression level of the fusion gene is monitored in patients over time.

The NewGene BCR-ABL test measures the amount of product from the BCR-ABL fusion gene using a sensitive quantitative method, RT-PCR. If the level of expression is low then the drug is working effectively. Higher levels of expression may indicate that the disease is recurring, or that the patient is no longer responding and an alternative treatment should be prescribed.

Features of the NewGene BCR-ABL Test

  • Quantitative monitoring of BCR-ABL expression levels according to International standard protocols

Referral form download

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CML mutation testing

A small number of patients develop resistance to the standard Imatinib treatment as the BCR-ABL gene acquires further mutations such that the drug is no longer able to recognise the mutant protein. Such patients require alternative treatments.

This test is performed on patients who fail to respond to Imatinib treatment, either initially or at some point during a course of treatment. The test will detect mutations in the BCR-ABL fusion gene identifying those patients whose failure to respond to standard treatments is due to the emergence of resistance mutations.

Features of the CML Mutation Analysis

  • Rapid detection of the clinically important T315I mutation (c.944C>T) on the Agena platform
  • Sanger sequencing to detect all other mutations.

Referral form download

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Mutation analysis in Myeloproliferative Neoplasms

Mutations in an increasing number of genes have been found to be important in differentiating between myeloproliferative neoplasms. The first identified in 2005, a point mutation (V617F, c.1849G>T) in exon 14 of the JAK-2 gene, affects a protein kinase that plays an important role in normal haemopoietic growth factor signalling. Additional mutations in exons 12 of the JAK-2 gene and exon 10 of the MPL gene and exon 9 of Calreticulin have since also been linked with myeloproliferative disorders.

There is some evidence that the level of the V617F mutation is related to the progress of disease in myeloproliferative disorders. Quantitative analysis, therefore, may have clinical utility in monitoring disease progression.

NewGene offer two screening pathways to support confirmation of diagnosis:

Mutation Screening in Polycythaemia Vera

  • Includes V617F mutation and mutations in exon 14 of JAK-2
  • Sequencing of exon 12 on request.

Mutation Screening in Essential Thrombocythaemia

  • Includes V617F mutation and mutations in exon 14 of JAK-2
  • Mutations in exon 10 of MPL at codons 505 and 515
  • All insertions and deletions in exon 9 of Calreticulin

Referral form download

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Standard histopathological diagnosis of malignant lymphoma can be challenging. The use of a PCR based assay for the identification of clonal populations is a valuable tool as in principle B- and T-cell lymphomas are clonal diseases.

The PCR based test amplifies targeted regions of DNA in the conserved regions of antigen receptor genes that lie on either side of an area within the V-J region where programmed genetic rearrangements occur during maturation of all B and T lymphocytes. The antigen receptor genes that undergo rearrangement are the immunoglobulin heavy chain (IGH) & light chains genes (IGK) in B-cells, and the T cell receptor genes (TCR) in T-cells.

Features of the NewGene Clonality Test

  • Select from T cell (TCR) and B cell (IGH and IGK) assays
  • Standardised PCR based test
  • Highly sensitive differential fluorescence detection
  • Relative quantification

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Diagnostic testing in haematology

The presence of specific mutations can be diagnostic for certain disorders:

  • The V600E (c.1799T>A) mutation in the BRAF gene is diagnostic for Hairy Cell Leukaemia
  • The D816V (c.2447A>T) mutation in the cKIT gene is diagnostic for mastocytosis.

These mutations can be detected in the NewGene BRAF and cKIT
tests respectively.

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Predictive testing for adverse drug reactions – TPMT

Polymorphisms in the thiopurine methyltransferase (TPMT) gene give rise to variation in the activity of the TPMT enzyme. Reduced TPMT activity can lead to adverse patient reaction when treated with thiopurine drugs (occurring in 10-28% of patients receiving the treatment). These drugs are commonly prescribed across a range of disorders and disciplines that include: leukaemia, post-transplantation, dermatology, gastroenterology, rheumatology, and autoimmune diseases such as Crohn’s disease and lupus.

Features of the NewGene test:

  • Detects four SNPs within the TPMT gene
  • Responsible for 80-95% of deficient TPMT activity.

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...tests for
blood based cancers
and myeloproliferative diseases

NewGene Ltd

Bioscience Building, International Centre for Life, Newcastle upon Tyne, NE1 4EP, UK
Tel: +44 (0)191 242 1923 | Fax: +44 (0)191 241 8799 | Email: info@newgene.org.uk | Web:www.newgene.org.uk

NewGene Limited | Company Number: 06735445

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