JAK p. V617F CASCADING REFLEX TO MPN PANEL

LAB1230472

Detection of JAK2 V617F/G1849T somatic mutation due to a single nucleotide polymorphism (SNP) in genomic DNA.

Genes Tested in the WVUH-Molecular Diagnostic MPN-panel include:
ASXL1: NM_015338.5 exon:1-13; NM_001164603.1 exon:5; CALR:NM_004343 exon:8-9; CSF3R:NM_172313  exon:10,18; NM_000760  exon:14-16; NM_156039  exon:17; EZH2: NM_004456 exon: 2-20; IDH1: NM_005896 exon:3-4; IDH2: NM_002168 exon: 4-6; JAK2: NM_004972 exon:12-15; MPL: NM_005373 exon:10,12; SF3B1: NM_012433 exon:13-21; SRSF2: NM_003016 exon:1-2

5 mL bone marrow collected in an EDTA (lavender-top) tube having lesions cells
 ≥20% or a minimum
≥10% determined either by morphology (blasts), or flow cytometry

4mL bone marrow collected in EDTA
4mL whole blood collected in EDTA

5 mL Whole blood collected in an EDTA (lavender-top) tube or extracted DNA minimum 200 ng (10 ng/ μL) from CLIA certified laboratory

Whole blood or bone marrow (EDTA)

• Room temperature: 2 days
• Refrigerated: 7 days
• Frozen: Unacceptable

Genomic DNA (once sample has been extracted) can be stored at +2-8°C for one week or -20°C for 2 weeks

• Non-validated sample type

• Specimen does not meet criteria for: minimum volume, no label in container, mismatching name/MRN/pathology number on specimen requisition, collection, and storage; frozen whole blood or marrow; leaking tube; clotted blood or marrow; severely hemolyzed and visibly degraded specimen; contaminated specimen; contains suspicious foreign material, sample mix-up.
• The stability limit for Blood and Bone Marrow is 7 days, samples beyond this limit will be rejected

Once a week (Samples should be received by Wednesday: 3pm to be included in the next run)

JAK2: Negative for JAK2 p.V617F (Mutant <= 0.5%)
NGS: No clinically reportable variant detected

This test may be performed whenever a non-BCR-ABL associated myeloproliferative disorder is suspected; specifically myeloproliferative neoplasms (MPN), polycythemia vera (PV), essential thrombocythemia (ET), and/or primary myelofibrosis (PMF) including setting with unexplained increased hematocrit, unexplained leukocytosis.
This test is also intended to be used in patient with refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T), myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML) and acute myeloid leukemia (AML). This test can be done for confirmation of clinical diagnosis or presymptomatic testing.