THROMBOCYTOPENIA AND PLATELET DISORDERS: CLINICAL EXOME PANEL (Sec. & CNVs) – 135 genes

The Thrombocytopenia and Platelet Disorders panel analyzes 135 genes involved in a broad spectrum of inherited disorders affecting platelet quantity, structure, and function. This panel covers congenital thrombocytopenia syndromes, hereditary thrombocytopathies, syndromic platelet syndromes, and combined hemostasis disorders, such as MYH9 syndrome, congenital amegakaryocytic thrombocytopenia (MPL), Bernard-Soulier syndrome, Glanzmann thrombasthenia, familial RUNX1 or ETV6-related thrombocytopenias, Gray Platelet syndrome (NBEAL2), X-linked thrombocytopenias (WAS), and platelet syndromes with dense granule or α-defects, among others.
Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, the panel allows the study of genes involved in megakaryopoiesis, granule formation, platelet activation and adhesion, and intracellular signaling. Some of the genes included in this panel are: MYH9, RUNX1, NBEAL2, GATA1, ITGA2B, ITGB3, GP1BA, GP1BB, FLNA, WAS, THPO, MPL, FERMT3, and TBXA2R, among others. The complete list of genes can be obtained by contacting Genotica.