JAK2 Somatic Mutation Testing

JAK2 is mutated in 4-9% of B-cell precursor ALL. In BCR-ABL1-negative, high-risk B-cell precursor
pediatric acute lymphoblastic leukemia (ALL) patients it can be found together with a IKFZ1 deletion in 87.5% of cases. In addition, a large majority of cases with polycythemia vera, thrombocythemia and
idiopathic myelofibrosis show a single V617F mutation in Exon 14 of JAK2 gene. Identification of a JAK2 variant indicates a myeloproliferative component in myelodysplastic syndrome and can be used as a
prognostic marker.

Centogene offers multiple screening tests for JAK2 gene to suit the recommendations of different

A. Selective sequencing of exons 12, 14 and 16

Over 48.5% of mutations in JAK2 in ALL cases include mutations of Arginine residue in the codon 683 in exon 16. A small number of AML patients also show c.1821G>C transversion in exon 14. In the absence of V617 mutation in patients with polycythemia vera or idiopathic erythrocytosis, K539L mutation in exon 12 has been previously reported. For rapid screening of these mutations Centogene offers selective
sequencing of exons 12, 14 and 16 using Next Generation Sequencing with a detection limit down to 5% allele

B. Full gene testing

Centogene offers testing of complete coding region of JAK2 gene at overall 90.8% coverage through Next Generation Sequencing that can detect mutations down to 5% allele frequency in tumor samples.

C. Panel Testing

For general screening of somatic mutations, JAK2 gene mutations/exon(s) are also a part of broader multi-gene panels like Cancer Hotspots Panel (detects 5 described mutations in JAK2 gene along with commonly described mutations in 49 other oncogenes), Myeloid Tumor Panel (covers exon 12 and exon 14 of JAK2 along with selective targeted regions in 53 other oncogenes and tumor suppressor genes involved in hematological malignancies) or Solid Tumor Panel (~90.8% of the coding region of JAK2 gene is covered along with over 95% coverage of coding regions of 61 other tumor related genes) that are readily available on Centogene website.

Please refer to preferred test(s) on our test catalogue or ask our customer relations team for more specific information. We are constantly developing new tests. If your preferred test is not listed on the webpage, please contact us directly. We will be happy to assist you find the best possible solution for your patient.

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