Calreticulin (CALR) Mutation Molecular Detection Build info
Synonyms |
|
Short Name |
CALRETICULIN GENE MUTATION ANALYSIS |
Procedure Master Number |
LAB11646 |
Procedure ID |
|
Clinical Info |
The most common mutation in patients with myeloproliferative neoplasms polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) is JAK2 V617F. CALR somatic mutations are seen in a large subset of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) who lack JAK2 and MPL mutations. CALR mutations are not found in patients with PV. Patients with a mutated CALR have a higher level of platelets, lower hemoglobin, a lower rate of thrombosis and overall better outcome than patients with a JAK2 or MPL mutation. |
Specimen Type |
Blood, Bone Marrow |
Container |
Lavender Top Tube |
Collection Instructions |
Peripheral Blood or Bone marrow |
Transport Instructions |
room temperature or at 4C with ice cold packs |
Specimen Stability |
Specimens are stable for a week refrigerated. |
Methodology |
Polymerase Chain Reaction (PCR) Amplification/Capillary Electrophoresis |
Days Performed |
Monday through Friday |
Performing Laboratory |
Northwell Health Laboratories |
CPT |
83891 - DNA extract-purify |
PDM |
1763033 |
Results |