Detection of the CALR gene mutations associated with the presence of myeloproljferative neoplasms

Мyeloproliferative neoplasms belong to a group of clonal hematological disorders, which include polycythemia vera, essential thrombocythemia and primary myelofibrosis. In order to properly diagnose and treat the patients, as well as to predict the clinical outcome of the disease, it is necessary to test for the presence of mutations in CALR gene occurring in about one third of the patients. The material for the detection of mutations  in the exon 9 of the CALR gene is DNA isolated from the peripheral blood granulocytes. Methodology used for the detection of these mutations is PCR method, followed by direct sequencing. For analysis, it is necessary to deliver 4 to 5 ml of full venous blood, collected with 3.8% Na-citrate as an anticoagulant. The peripheral blood specimen must be delivered on the same day it was collected. Do not freeze the samples! Submission of samples can be made on every working day from 10-13 h. Also, there is a possibility to send the sample via Express post. Analysis is completed within 10 working days. The result and the receipt are delivered to the home address by registered mail, and can also be picked up in person from 10 am to 4 pm every working day at the Institute.

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