Calreticulin (CALR) Mutation Molecular Detection

Synonyms

• CALRETICULIN GENE MUTATION
• JAK2-NEGATIVE MYELOPROLIFERATIVE NEOPLASM
• LAB11646
• MYELOPROLIFERATIVE DISORDERS

Cerner Name

HLX CALR CASE

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 Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous Bone Marrow Bone Marrow Aspirate

Specimen Types

Aspirate Blood Bone Marrow

Specimen Volume

Container

Lavender Top Tube

Collection Instructions

Peripheral Blood or Bone marrow
Container/Tube:  Lavender-top (EDTA) tube
Specimen:  1-3 mL 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
TAT: 8 Calendar days

Performing Laboratories

Northwell Health Laboratories

CPT

83891 - DNA extract-purify
81219

PDM

1763033

Results

Result Interpretation

Forms

• Molecular test Requisition Form
• Heme/Onc Requisition