Detection of V617F mutation in the JAK2 gene

Mutation V617F of JAK2 gene is a hallmark of myeloproliferative diseases. This group of clonal hematological malignancies comprises of three diseases: polycythemia vera, essential thrombocytemia and idiopathic myelophibrosis. The point mutation V617F in exon 14 of JAK2 gene leads to replacement of nucleotide G with T at position 1849. On protein level, it leads to the replacement of the amino acid valine to phenylalanine at the position 617 (V617F).

For detection of V617FJAK2 mutation, the allele-specific PCR method on DNA isolated from peripheral blood granulocytes is used.

It is necessary to deliver 4 to 5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant in vol/vol ratio 1:9. The sample is required to be delivered fresh, without freezing, during the same day. The samples are accepted every day from 10 to 13h. It is possible to deliver the sample via post express service. The analysis is performed within 10 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.

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