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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