CALR Somatic Mutation Testing

Frequent frameshift deletions or insertions in exon 9 of CALR gene are found in patients with
myeloproliferative neoplasms, including myelofibrosis and essential thrombocythemia. CALR mutations are most frequently observed in patients with primary myelofibrisis where no mutations in JAK2 or MPL were found, pointing out to mutually exclusive occurrence of mutations in these genes.

Centogene offers multiple screening tests for targeted and general screening of mutations in CALR gene.

A. Selective sequencing of exon 9

Sequencing exon 9 alone is sufficient to cover all important mutations (including described insertions and deletions) within CALR gene that is implicated in myeloproliferative neoplasms. For rapid screening of
important somatic mutations in CALR gene, Centogene offers selective sequencing of CALR exon 9 through Next Generation Sequencing that allows detection of mutations at allele frequency down to at least 5%.

B. Panel Testing

For general screening of somatic mutations, CALR gene mutations/exon are also a part of broader multi-gene Myeloid Tumor Panel (covers exon 9 of CALR along with selective targeted regions in 52 other oncogenes and tumor suppressor genes involved in hematological malignancies) that is 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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