High-sensitivity <i>KIT</i> D816V variation analysis by droplet digital polymerase chain reaction: The reference laboratory perspective
Overall, ddPCR for detection of KIT D816V dramatically increases sensitivity over NGS tests used for myeloid malignancies, including systemic mastocytosis. Our findings also provide support for the use of a lower serum tryptase threshold (>11.4 ng/mL instead of >20ng/mL) to initiate workup for a mast cell neoplasm.
Authors
- Ryan C. Shean (ORCID: https://orcid.org/0000-0001-7855-4976)
- Tracy I. George (ORCID: https://orcid.org/0000-0001-5478-7847)
- Sabine Hellwig (ORCID: https://orcid.org/0000-0002-9809-947X)
- Anton Rets (ORCID: https://orcid.org/0000-0002-2148-162X)
- Abdulrahman Saadalla (ORCID: https://orcid.org/0000-0002-3175-3967)
Institutions
- University of Utah (US)
- ARUP Laboratories (United States) (US)
Publication Details
- Journal
- American Journal of Clinical Pathology
- Published
- 2025-02-26
- DOI
- https://doi.org/10.1093/ajcp/aqaf008
- Citations
- 6
- Primary Topic
- Mast cells and histamine
- Type
- article
- Field-Weighted Citation Impact
- 4.78