Cancer Genetics announces launch of CALR mutation analysis test to aid in diagnosis of MPNs

April 9, 2014

Cancer Genetics, Inc., (CGI) has launched a genetic diagnostic test for detecting mutations in the calreticulin (CALR) gene. This test helps physicians identify patients with certain types of myeloproliferative neoplasms (MPNs), which are blood cancers that have the potential to evolve into acute leukemia. CGI offers the test under both CLIA and New York state approvals.

In addition to having diagnostic value, the CALR mutation analysis also has the potential to provide significant prognostic value. Patients with the CALR mutation are understood to have more favorable disease outcomes (including lower risk of thrombosis) as well as longer overall survival in comparison to patients who possess other biomarkers (such as the JAK2 mutation).

“CALR mutation analysis allows for a more comprehensive diagnosis of patients with myeloproliferative neoplasms,” says Lan Wang, MD, Medical Director for CGI. “This test can help simplify the diagnosis of MPN and may be helpful in stratifying patients according to whether they should receive aggressive or conservative disease management. We see CALR mutation testing becoming one of the routine genomic tests provided to MPN patients.”

MPNs are a related group of blood cancers characterized by the overproduction of mature blood cells. Recent advances in research have demonstrated that mutations in the CALR gene can serve as an important biomarker in the diagnosis of two subtypes of patients with MPN: essential thrombocythemia and primary myelofibrosis CALR mutations do not appear to occur in patients with JAK2 and MPL mutations, two other well-established biomarkers in leukemia. Read CGI's Clinical Test Menu.

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