Mastocytosis is the common term for a heterogenous group of diseases characterized by abnormal accumulation and growth of neoplastic mast cells in tissues and organs. The WHO criteria for diagnosis of systemic mastocytosis include detection of the KIT point mutation at codon 816 in the bone marrow or another extracutaneous organ. Although the fraction of cells carrying the KIT D816V mutation is often very low (<0.1% mutated allele), presence of the mutated allele is well correlated with mastocytosis.
PentaBase has recently released the PlentiPlex™ Mastocytosis CE IVD in vitro diagnostic assay for detection of the KIT D816V mutation in human genomic DNA from whole blood samples to assist the diagnosis of mastocytosis. PlentiPlex™ Mastocytosis CE IVD has been developed in collaboration with Mastocytosis Centre Odense University Hospital (MastOUH) for use with Applied Biosystems QuantStudio™ Real-Time PCR Systems. Clinical validation of PlentiPlex™ Mastocytosis CE IVD was performed by MastOUH and demonstrated 100% specificity and 0.01% limit of detection in a retrospective clinical study using whole blood samples from KIT D816V-mutation positive MastOUH-patients and controls. The study has just been accepted for publication in Allergy, European Journal of Allergy and Clinical Immunology (Kristensen et al. 2020)