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Diagnosis of inherited bleeding disorders (IBDs) requires careful evaluation of patients’ clinical features and assessment of bleeding with the appropriate tools. Definitive diagnosis can be achieved by platelet functional assays for some disorders, but, in most cases, these tests are not sufficiently sensitive or specific. Moreover, tests are hindered by the need for relatively large samples of fresh blood. Identifying the underlying molecular defect not only facilitates a definitive diagnosis of an IBD, but may also help with the clinical prognosis, and enable genetic counseling. Until recently, molecular diagnosis has relied on Sanger sequencing of single or small numbers of candidate genes that are already known to cause some inherited platelet disorders. High-throughput sequencing (HTS) technologies have revolutionized molecular diagnosis of human disease, since they allow simultaneous, rapid and affordable investigation of multiple genes. HTS is being widely implemented and is rapidly improving the molecular characterization of IBDs in routine clinical practice.

A Modern Approach to the Molecular Diagnosis of Inherited Bleeding Disorders