Rarity Bioscience recently announced the launch of its superRCA Ultra-Sensitive KIT D816V Kit RUO, a genetic test designed to detect the KIT D816V mutation at very low levels. The test can detect the mutation even when it is present in fewer than one in 100,000 copies of the genetic material tested.
The KIT D816V mutation is the main driver of systemic mastocytosis (SM), but the mutation often occurs at low levels, particularly in peripheral blood. This creates a hurdle both for SM research and for diagnosing patients with the disease: One previous study reported a mean interval of about six years from SM symptom onset to diagnosis.
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According to Dr. Ben Lampson, senior medical director of clinical research at Blueprint Medicines, “Many patients with systemic mastocytosisMastocytosis Rare disease caused by the buildup of mast cells. Cutaneous mastocytosis primarily affects the skin and is more common in children, while systemic mastocytosis affects internal organs and is more common in adults. experience a substantial symptom burden, even when circulating KIT D816V levels are low, underscoring the importance of timely diagnosis and care.”
Learn more: “What is KIT D816V mutation testing?”
The assay was developed through an ongoing collaboration with experts from Blueprint Medicines, a Sanofi company, as well as clinicians and researchers specializing in SM. The collaboration is focused on developing noninvasive, blood-based approaches that could improve detection.
Rarity Bioscience said the technology uses readily available flow cytometers, a type of laboratory instrument that quickly analyzes particles using lasers. This could help laboratories adopt the technology without making large financial investments.
Currently the assay is for research use only, but it is expected to become commercially available in October 2026.
For patients, the immediate impact is limited because the assay is not currently a clinical diagnostic test. Its potential value is in research: More sensitive measurement of KIT D816V could provide additional information about SM biology and support development of blood-based testing and therapies. Rarity Bioscience said its broader goal is to advance ultra-sensitive molecular analysis for applications including disease detection, therapy monitoring and clinical research.
Read more about genetic testing: “Solving the puzzle: How genetic testing helps diagnose systemic mastocytosis”
