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Article

High-sensitivity KIT D816V variation analysis by droplet digital polymerase chain reaction: The reference laboratory perspective.

American journal of clinical pathology - 26 Aug 2025

Shean Ryan C, Hellwig Sabine, Saadalla Abdulrahman, George Tracy I, Rets Anton V

Abstract excerpt

OBJECTIVE: Systemic mastocytosis is a hematologic malignancy characterized by clonal expansion of neoplastic mast cells. Detection of this variation is critical for screening and diagnosis, with recent guidelines emphasizing the need for high-sensitivity assays that identify variants at a variant allele frequency below 0.05%. Our reference laboratory offers droplet digital polymerase chain reaction (ddPCR) for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40036308
DOI: 10.1093/ajcp/aqaf008

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KIT

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