The inherited bone marrow failure syndromes are a clinically and genetically heterogeneous group of diseases affecting hematopoiesis, resulting in reduced or abnormal production of one or more of the three blood cell types (red blood cell, white blood cell and platelets). The most common genetic causes of bone marrow failure include dyskeratosis congenita, Diamond Blackfan anemia, Fanconi anemia Schwachman Diamond syndrome, congenital thrombocytopenia, and inherited causes of neutropenia. Bone marrow failure syndromes may be inherited in an autosomal dominant, autosomal recessive, or X- linked manner. Patients with bone marrow failure are at an increased risk of developing myeloid dysplastic syndromes. 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.
- This panel includes all of the genes from our Diamond-Blackfan Anemia, Telomere Biology Disorder/Dyskeratosis Cogenita, Fanconi Anemia, and Severe Congenital Neutropenia panels.
