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Essential Thrombocythaemia and Idiopathic Myelofibrosis (IMF)

These patients are tested for JAK2 V617F mutation.

In JAK2 V617F-negative ET and IMF cases, 3-4% and 4-8% of patients respectively have a mutation in exon 10 of the MPL gene.

Mutations in exon 9 of the calreticulin gene (CALR) have been described in around one third of ET and IMF patients who are JAK2 V617F-negative and MPL-non-mutated.

Screening of these mutations has been included as part of the BCSH criteria for the diagnosis of ET and IMF. CALR screening is performed by the laboratory.

We are able to send an aliquot of the archived DNA sample for screening of the MPL gene to our collaborators, on behalf of referrers.