BloodCenter of Wisconsin's Diagnostic Laboratories has announced the availability of a Calreticulin (CALR) mutation analysis to identify gene mutations that are found in patients with rare and chronic blood disorders. Detecting a CALR mutation vastly improves the diagnosis of myeloproliferative neoplasms (MPN), a group of diseases that affect blood cell formation. Accurate diagnosis of these disorders provides physicians with information needed to provide appropriate patient therapy.
Myeloproliferative disorders such as essential thrombocythemia (ET) and primary myelofibrosis (PMF) are characterized by abnormal blood cell counts and other symptoms. MPN affects approximately 300,000 people in the United States. In most ET and PMF cases with nonmutated janus kinus 2 gene (JAK2), the presence of CALR mutations have been identified and used to determine patient risk and outcomes.
In patients with ET and PMF, the CALR mutation aids in risk stratification. In patients with PMF, a longer overall survival rate is associated with a CALR mutation in comparison to a JAK2 gene mutation presence. Patients with ET have a lower risk of thrombosis with a mutation of CALR in comparison to a JAK2 presence.
BloodCenter spokespersons note that its MPN testing algorithm eliminates the need for test samples to be sent to multiple laboratories, thus improving test efficiency and cost-effectiveness. For patients who have suspected ET or PMF, the CALR gene can aid in diagnosis and risk stratification.
“Efficient and accurate diagnosis of MPN is critical in order to properly manage patient care,” says D.P. Dash, PhD, director of BloodCenter's Molecular Oncology Laboratory. “The addition of BloodCenter's CALR test provides physicians worldwide with leading-edge testing in the area of molecular oncology.” Read an article co-written by Dr. Dash on a related topic, published last year in MLO.Read more