MPN Diagnostic Cascading Reflex

Improved analysis for cost-effective testing of myeloproliferative neoplasms

Quest Diagnostics MPN Diagnostic Cascading Reflex looks at genetic mutations to provide physicians a more accurate diagnostic workup for patients suspected of having myeloproliferative neoplasms (MPNs).

MPN Diagnostic Cascading Reflex offers physicians superior sensitivity to traditional Sanger DNA sequencing, so you and your patients can know more, sooner, about their condition and make more informed treatment decisions.

Order MPN Diagnostic Cascading Reflex today

Built on recent guidelines

Based on modified testing guidelines suggested in the 2016 revision of the World Health Organization Classification of Myeloid Neoplasms and Acute Leukemia, the test interrogates DNA from leukocytes and simultaneously looks for mutations across multiple genes. When used in conjunction with other clinical tests, the MPN Diagnostic Cascading Reflex can help physicians make a more informed diagnosis and closely monitor disease progression and patient response to treatment.

The MPN Diagnostic Cascading Reflex includes multiplex PCR and sequencing analysis for MPN mutations:

  • Codon 617 (exon 14) and exon 12
  • CALR frame shift mutations in exon 9
  • MPL mutations at codons 505 and 515 (exon 10)
  • CSF3R mutations in exons 14 and 17

Optimized testing efficiency

The MPN Diagnostic Cascading Reflex only tests until a mutation is found. The order of the cascading reflex is based on established mutation frequencies in MPNs: JAK2 V617F, CALR, JAK2 (exon 12), MPL, and CSFR3. All mutations operate through signal pathways mediated by JAK2 and can respond to clinically available JAK2 inhibitors.1-4

More informed patient care

Combined testing for JAK2 V617F, CALR, JAK2 (exon 12), MPL, and CSFR3 mutations provides physicians a number of diagnostic benefits:

  • Better sample stability—DNA-based assays have longer specimen stability than plasma-based assays and provide a cell-equivalent level of mutations
  • A cost-effective panel—if the test detects a mutation, further testing stops and only the completed tests are billed
  • Enhanced sensitivity—lower limit of sensitivity for mutation is set at 5%, which is superior to traditional Sanger DNA sequencing methods
  • Integrated view of the disease—provides a clonal molecular marker of disease following the diagnosis and selection of appropriate JAK2 inhibitor therapy, which can be useful in follow up

Ordering information and specimen requirements

Separately orderable tests for JAK2 V617F, CALR, JAK2 (exon 12), MPL, and CSF3R are also available.

Click here for test ordering information.

To learn more about MPN Diagnostic Cascading Reflex, speak with your Quest Diagnostics sales representative or call 1.866.894.6920 to speak with a Hematopathology customer service representative.

*The CPT codes provided are based on American Medical Association guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


  1. Cazzola M, Kralovics R. JAK inhibitor in CALR-mutant myelofibrosis. N Engl J Med. 2014;370(12):1169. doi: 10.1056/NEJMc1400499
  2. Fleischman AG, Maxson JE, Luty SB, et al. The CSF3R T618I mutation causes a lethal neutrophilic neoplasia in mice that is responsive to therapeutic JAK inhibition. Blood. 2013;122(22):3628-3631. doi: 10.1182/blood-2013-06-509976
  3. Harrison CN, Mesa RA, Kiladjian JJ, et al. Health-related quality of life and symptoms in patients with myelofibrosis treated with ruxolitinib versus best-available therapy. Br J Haematol. 2013;162(2):229-239. doi: 10.1111/bjh.12375
  4. Koppikar P, Abdel-Wahab O, Hedvat C, et al. Efficacy of the MPN inhibitor INCB16562 in a murine model of MPLW515L-induced thrombocytosis and myelofibrosis. Blood. 2010;115(14):2919-2927. doi: 10.1182/blood-2009-04-218842