Nowadays, early, accurate molecular diagnosis of IPD undoubtedly facilitates clinical management, particularly in the serious, potentially fatal types, in which genotype is related to prognosis and severity of hematological and/or extra-hematological disease, such as congenital amegakaryocytic thrombocytopenia (CAMT), familial platelet disorder with predisposition to hematological malignancies (FPD/AML), MYH9-RD, Wiskott-Aldrich syndrome (WAS), Hermansky-Pudlak syndrome (HPS) or Chediak-Higashi Syndrome (CHS) [8,26]. This evidence concerns the gene MYH9 and congenital amegakaryocytic thrombocytopenia.