Table 1 Clinical diagnosis of patients tested by the next generation sequencing IBMFS gene panel assay.
Diagnosis | Number of patients tested by the NGS panel |
|---|---|
Diamond Blackfan anemia | 43 |
Fanconi anemia | 22 |
Kostmann/Severe congenital neutropenia | 16 |
Shwachman-Diamond syndrome | 12 |
Dyskeratosis congenita | 12 |
Cyclic neutropenia | 9 |
Inherited sideroblastic anemia | 7 |
Congenital dyserythropoietic anemia | 6 |
Congenital amegakaryocytic thrombocytopenia | 3 |
Familial thrombocytopenia | 3 |
Radio-ulnar synostosis | 2 |
Thrombocytopenia absent radii syndrome | 2 |
Reticular dysgenesis | 1 |
Unclassified (total) | 120 |
With pancytopenia | 56 |
With neutropenia | 24 |
With anemia | 11 |
With thrombocytopenia | 6 |
With MDS/leukemiaa | 20 |
Unknownb (3) | 3 |
Total | 258 |
