The great thing about working at Miraca Life Sciences is that we’re constantly evolving and ﬁne tuning our approach to cases. We are focused on pushing the envelope with testing for diseaseslike paroxysmal nocturnal hemoglobinuria (PNH). We also want to contribute to the knowledge base of cliniciansthrough the practice ofsuperior hematopathology methods guided by clinical reason and patient presentation.
In clinical terms, paroxysmal nocturnal hemoglobinuria (PNH) is synonymous with glycosylphosphatidylinositol (GPI) deﬁciency, and is an acquired clonal disorder associated with somatic mutations of the X-linked PIGA gene in hematopoietic stem cells. 5
PNH is a rare disease with an estimated annual incidence of 4 per million. 1 The condition is a progressive and debilitating hematopoietic stem cell disorder characterized [...]
Screening and diagnosis of patients with PNH has improved with the development of ﬂow cytometry. 1 Immunophenotypic analysis of GPI-linked antigen expression on red cells and peripheral blood granulocytes by ﬂow cytometry provides a rapid, sensitive and speciﬁc method for screening and diagnosis of PNH. 2
Traditional laboratory methods for diagnosing PNH are based on proving an increased susceptibility of [...]
Plasma cell enrichment techniques concentrate the overall population of plasma cells, thereby increasing the detection and frequency of abnormalities. Cytogenetic analysis of plasma cell disorders (PCD) is diﬃcult due to the low proliferative rate of plasma cells in vitro. Although interphase ﬂuorescence in situ hybridization (FISH) has improved the detection of abnormalities in PCD, cases having a low level of [...]