Myeloproliferative Neoplasms Focused NGS Panel


Sunquest Code:MPNFOCCoPath Code:MPNFOC
Epic Code:LAB8066Epic Name:Myelodysplastic Syndrome Focused NGS Panel
Synonyms:CALR; JAK2; MPL; MPN
Methodology:Next generation sequencing
Test Includes:Next generation sequencing of CALR; JAK2, MPL
Turnaround Time:Performed Mon-Fri; results are reported within 7-10 days.
Special Instructions:Bone Marrow Transplant Patients: If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.


Collection Instructions

Specimen:Blood, bone marrow
Optimal Volume:10 mL blood; 3 mL bone marrow.
Minimum\Peds Volume:3 mL blood; 1 mL bone marrow
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Collection Instructions:Bone marrow clot acceptable for testing.
Causes for Rejection:Whole blood: frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old. All testing will be cancelled if engraftment testing is 100% donor engrafted in consultation with clinician.
Shared blood or bone marrow samples will not be accepted unless sent to  Molecular first. Contamination will occur on automated hematology analyzers.


Processing and Shipping

Specimen Processing:Do not process. Store at room temperature.
Shipping Instructions:Ship at room temperature. Do not refrigerate or freeze.
Stability:Whole blood samples are stable for 5 days at room temperature. Do not refrigerate or freeze.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:See interpretive report.
Use:This multi-gene panel is alternatively ordered in suspicious myeloproliferative neoplasms (MPN) for patients who require results for all three genes to result at the same day without delay. The 2017 WHO diagnostic criteria include molecular testing for JAK2, CALR, and MPL mutations for MF and ET and molecular testing for JAK2, V617F or JAK2 exon 12 mutations for PV. JAK2 mutations (exon 14 or 12) are present in approximately all polycythemia vera (PV) patients; however, JAK2 mutations are present in only 60-65% of both essential thrombocythemia (ET) and primary myelofibrosis (MF) patients. CALR mutations are present in 20-25% of both ET and MR, while MPL mutations are present in 3% and 7% in ET and MF patients, respectively. CALR mutations are associated with improved survival compared to JAK2 mutations and "triple-negative" myelofibrosis; and CALR mutations are associated with lower risk of thrombosis compared to JAK2 mutations. The "triple-negative" mutation status (lack of all 3 "driver" mutations - JAK2, CALR or MPL) occurs in approximately 10% of MF patients, and is associated with worse prognosis.


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