Thrombocytopenia Panel

Inherited thrombocytopenias are a heterogeneous group of disorders characterized by a reduced platelet count often manifesting as bleeding diathesis which subsequently result in impaired haemostasis. Common symptoms include easy or excessive bruising (purpura), petechiae, prolonged bleeding from cuts, spontaneous nose bleeds, hematuria, and menorrhagia in women. Inherited thrombocytopenia syndromes are recognized as a spectrum of clinical disorders, ranging from severe diseases in neonates to mild conditions that are identified incidentally in adults. Thrombocytopenia may be inherited in an autosomal recessive, autosomal dominant or X-linked recessive manner. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.