How is polycythemia vera (PV) diagnosed? — Expert Video

Professor of Medicine, Dr. John Mascarenhas, provides an overview of how polycythemia vera (PV) is diagnosed. PV is often first suspected when a routine blood test shows elevated blood cell counts, though some people are referred for symptoms such as headaches, an enlarged spleen, or blood clots. Dr. Mascarenhas emphasizes the importance of a baseline bone marrow biopsy, which confirms the diagnosis, evaluates fibrosis, and allows for genetic testing through next-generation sequencing (NGS) from the source of the bone marrow. He also explains the variant allele fraction (VAF), which measures the proportion of cells carrying the JAK2 mutation and helps estimate disease burden over time.

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