From 1st June 2026, orders for myeloproliferative neoplasm testing on peripheral blood sent to our Cambridge lab will result in a single, more-comprehensive clinical report containing information on genetic variants within four key genes: JAK2, CALR, MPL, and SH2B3.
This change to an all-in-one test from a series of standalone gene tests is intended to increase the likelihood of attaining a clinically actionable result from a single test.
Under this new approach, orders sent to the Cambridge lab will be processed using a next generation sequencing method. This will result in a single report including all genetic findings, with an expected turn around time of 21-days.
The new method:
- Will detect variants in all protein coding regions of the JAK2, CALR, MPL, and SH2B3 genes.
- Is appropriate for routine diagnostic testing in line with guidance from the British Society of Haematology (opens in a new tab) (2021). It has been validated to a limit of detection (LoD) of 5% variant allele frequency (VAF), with a further 1% VAF for JAK2 V617F.
Samples sent to the Cambridge lab before 1st June may be analysed using either the old or new processes depending on when they arrived.
There is no change to the eligibility criteria order process for testing. Please continue to use our haematological malignancy order form.
Monitoring JAK2 V617F variants
Where clinically appropriate, the standalone test for JAK2 V617F can still be specifically requested on samples from patients with a pre-existing JAK2 V617F mutation following an allogenic bone marrow transplant.
This assay is purely qualitative but offers a lower limit of detection 0.5% - 1%.
Please contact us with any questions.