Hematopoietic Malignancies with Germline Predisposition Diagnosis with Filtered Whole Exome Sequencing and in silico Panel Analysis.

In the frame of the development of new analytical methods for the diagnostic of patients suffering of suspected inherited malignancies with poor access to rapid diagnosis due to a restricted number of analytical sites or the current use of non-comprehensive targeted panels, we developed a new NGS panel for the analysis of several haematological diseases based on a filtered whole exome sequencing approach.

We aim to provide physicians with a comprehensive diagnostic panel for the diagnostic work-up of patients affected (or suspected to be affected) by inherited haematological malignancies and related diseases enhancing the patient’s chances to benefit from a personalized medicine approach; together with a view to increase the knowledge about those (rare) conditions.