This validation study demonstrated that the discrimination power compared to healthy controls was excellent for platelet function disorders (e.g., Glanzmann thrombasthenia, δ-storage pool disorder, primary secretion defects) but poor for thrombocytopenias (e.g., MYH9-related disorders, monoallelic Bernard Soulier syndrome, ANKRD26- and ETV6-related thrombocytopenias), which were also associated with a lower frequency of (clinically relevant) bleeding symptoms. The gene discussed is MYH9; the disease is Thrombocytopenia.