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Distribution of patients and specimens by diagnosis
| Diagnosis | No. of patients | No. of specimens assayed |
|---|---|---|
| Control | 17 | 17 |
| Shwachman-Diamond Syndrome - Common SBDS mutations - Missense SBDS mutations - Molecular sequencing not done |
10 7 2 1 |
20 15 4 1 |
| Aplastic anemia | 17 | 17 |
| Diamond-Blackfan anemia | 17 | 17 |
| Fanconi anemia | 7 | 7 |
| Severe congenital neutropenia | 6 | 7 |
| Congenital amegakaryocytic thrombocytopenia | 2 | 2 |
