Dr. Gabriela Hobbs, Clinical Director of Leukemia Service at Massachusetts General Hospital, provides an overview of how
essential thrombocythemia (
ET) is
diagnosed. She explains that ET is often first suspected when a routine blood test shows a high platelet count, though some people seek care for symptoms such as headaches or blood clots. Dr. Hobbs explains that high platelet counts alone are not enough for a diagnosis. Doctors use established criteria that include
blood tests for specific genetic mutations, such as
JAK2
,
CALR
, or
MPL
, and often a
bone marrow biopsy to confirm ET and rule out other conditions. She also provides an overview of
next-generation sequencing (
NGS) and
variant allele fraction (
VAF).
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