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Optimized Test Utilization Significantly Increased the Positive Detection Rate for Myeloproliferative Neoplasms
Landry E Nfonsam1,2, Melody Zhenchen Qi3, Darci T Butcher1,2
1Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON L8V 1C3, Canada.
Cancers
|July 28, 2026
Summary
Implementing clinical criteria for myeloproliferative neoplasms (MPNs) testing significantly reduced test volumes and improved diagnostic yield. This optimization enhances laboratory efficiency for MPN molecular diagnostics.
Area of Science:
- Hematology
- Molecular Diagnostics
- Clinical Pathology
Background:
- Molecular testing for myeloproliferative neoplasms (MPNs) often lacks defined clinical criteria, leading to inefficient laboratory use and limited diagnostic benefit.
- Unnecessary testing can strain resources without proportional gains in identifying MPNs.
Purpose of the Study:
- To evaluate the impact of implementing specific clinical acceptance criteria for MPN molecular testing.
- To assess changes in laboratory utilization and diagnostic yield following the introduction of these criteria.
Main Methods:
- A retrospective study analyzed 3590 MPN gene tests (JAK2, CALR, MPL, BCR::ABL1) over a year, comparing permissive and restricted testing periods.
- Clinical criteria included abnormal blood counts, thrombosis, hepatosplenomegaly, or leukoerythroblastic film.
- The study also noted a transition from PCR to next-generation sequencing (NGS) for MPN testing.
Main Results:
- Test volumes decreased by 43% (1835 to 1050) after implementing criteria.
- The positivity rate for MPN molecular tests increased from 12% to 17%.
- Patients with elevated platelets showed the highest positivity rate (35%), and JAK2 V617F was the most common mutation (73%).
Conclusions:
- Implementing pre-test clinical criteria significantly enhances the efficiency and diagnostic yield of MPN molecular testing.
- Optimized testing strategies improve laboratory resource allocation for MPN diagnostics.