A comparison of sequential polymerase chain reaction–based cascade testing vs next-generation sequencing in molecular profiling of myeloproliferative neoplasms: improving testing strategies in light of evolving molecular landscapes

Next-generation sequencing provides comprehensive molecular profiling in patients with MPNs, identifying additional prognostic and therapeutic markers. However, PCR remains superior for detecting low-variant allele frequency variants. We propose an updated MPN testing strategy that integrates PCR and NGS within a reflex algorithm to optimize diagnostics and therapeutic guidance.

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Publication Details

Journal
Laboratory Medicine
Published
2025-04-16
DOI
https://doi.org/10.1093/labmed/lmaf004
Primary Topic
Myeloproliferative Neoplasms: Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

A comparison of sequential polymerase chain reaction–based cascade testing vs next-generation sequencing in molecular profiling of myeloproliferative neoplasms: improving testing strategies in light of evolving molecular landscapes

D. Goldstein, Kritika Krishnamurthy, Rizwan Naeem, Xiaowei Liu
Laboratory Medicine
Myeloproliferative Neoplasms: Diagnosis and Treatment
article

A comparison of sequential polymerase chain reaction–based cascade testing vs next-generation sequencing in molecular profiling of myeloproliferative neoplasms: improving testing strategies in light of evolving molecular landscapes

D. Goldstein, Kritika Krishnamurthy, Rizwan Naeem, Xiaowei Liu
article en

Abstract

Next-generation sequencing provides comprehensive molecular profiling in patients with MPNs, identifying additional prognostic and therapeutic markers. However, PCR remains superior for detecting low-variant allele frequency variants. We propose an updated MPN testing strategy that integrates PCR and NGS within a reflex algorithm to optimize diagnostics and therapeutic guidance.

Laboratory MedicineVol. 56(5)
Albert Einstein College of Medicine (US), Montefiore Medical Center (US)
Openalex Percentile: Top 89%
Myeloproliferative Neoplasms: Diagnosis and Treatment
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