Patient history |
Duration of cytopenias (are pediatric records available?) |
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Medications (prescribed and over-the-counter supplements) |
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Immunization records |
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Exposures |
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Transfusions |
Family history |
Constitutional abnormalities |
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Malignancies |
Physical examination |
Height (in context of mean parental height) |
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Limb abnormalities |
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Skin and nail abnormalities (café-au-lait spots, nail dystrophy, pale patches) |
Laboratory |
Peripheral blood |
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β-Human chorionic gonadotropin (consider even if intercourse is not explicitly stated) |
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Complete blood count with differential |
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Reticulocyte counts |
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Chemistries |
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Transaminases and bilirubin |
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Hepatitis serologies |
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Fluorescent aerolysin assay for paroxysmal nocturnal hemoglobinuria |
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Chromosome breakage tests |
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Telomere length and mutational analysis (if DKC suspected) |
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Bone marrow |
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Aspirate and biopsy |
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Flow cytometry (including quantitative CD34) |
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Cytogenetics |