JAK2 Exon 12, 13, 14, 15 mutation analysis

Alphabetical Test listing

JAK2 Exon 12, 13, 14, 15 mutation analysis-13516

  
JAK2 Exon 12, 13, 14, 15 mutation analysis
  
13516
  
LAB13516
  
JAK2
  

Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). This test will assess mutations in JAK2 exons 12, 13, 14 and 15.

 

The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. A small percentage of JAK2 mutation-positive patients (3.3%) contain other non-V617F mutations within exons 12 to 15. In particular, mutations in exon 12 of JAK2 have been described in approximately 3% of patients with PV. JAK2 mutation allele burden correlates with clinical phenotype, with low levels of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells.

  

This assay has a sensitivity of approximately 1% VAF for JAK2 V617F, and 2.5% VAF for other mutations in JAK2 exons 12 to 15.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

  
EDTA whole blood
  
  
5.0 mL
  
3.0 mL
  

Immediatley following collection, mix sample by inverting 8 - 10 times to prevent clotting

  

Lavender (EDTA), 4mL

  
Sodium heparin (Na hep) whole blood
ACD whole blood
Bone marrow
  

Dk green Sodium heparin (Na hep), no gel

Yellow ACD (A or B)

 

 

Bone marrow - can be collected in any of the acceptable blood tubes listed

  
Bone marrow - 2 mL (minimum 1.0 mL)
  

Immediatley following collection, mix sample by inverting 8 - 10 times to prevent clotting

  

Dk green Sodium heparin (Na hep), no gel

Yellow ACD (A or B)

Bone marrow- can be transported in any of the acceptable blood tubes for this assay. 

  

Molecular Medicare billing request

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

  

Refrigerated (preferred) - 7 days

Ambient - 72 hours

 

  
  • Specimen does not meet all of the criteria for sample type, container, minimum volume, collection and storage
  • Frozen whole blood or marrow
  • Leaking tube
  • Clotted blood or marrow
  • Grossly hemolyzed or otherwise visibly degraded
  • Contamination by another specimen
  • Specimen containing foreign material
  
LabCorp (489501): R-LC
  
Daily
  
7 days
  

Amplicon-based next generation sequencing

  

An interpretive report will be provided

  
This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
  
81279
  
Yes
  
Result 48726-4
  

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medicare billing request form to notify us of the need for Allina Health Laboratory to bill insurance.

Molecular Medicare billing request

  
04/09/2019
  
05/23/2024
  
07/12/2023