Fragment analysis of exon 9 of the CALR (calreticulin) gene for enhanced detection of low levels of insertion/deletion mutations. Automatic reflex to bi-directional sequencing will be performed for positive samples that are not Type 1 and Type 2 mutations and results will be reported out in an addendum. Testing is approved for specimens from the state of New York. Read more about the CALR Mutation Analysis.
CALR mutation analysis aids diagnostic confirmation of Philadelphia-chromosome negative and JAK2/MPL-mutation negative MPN. CALR mutations are mutually exclusive with JAK2 and MPL mutations, and are detected in peripheral blood in the majority (~70-85%) of essential thrombocythemia (ET) and primary myelofibrosis (PMF) cases that are JAK2- and MPL-mutation negative. CALR mutations are not reported in polycythemia vera (PV) and can distinguish ET and PMF from PV. Presence of CALR mutations is also associated with a better clinical course than JAK2 mutations.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.