Diagnostic tests and differential diagnosis
| Diagnostic tests . | Possible diagnosis to be identified . |
|---|---|
| CBC with differential | Leukemia, Evans syndrome |
| Reticulocytes | FA, DC, SDS, MDS |
| Smear review | WAS, XLT, BSS, X-linked gray plt syndrome, gray plt syndrome, MYH9-RD, RUNX1 heterozygous, leukemia |
| Immunoglobulins (IgM, IgG, IgA) | CVID, WAS |
| Liver Function Tests | Hepatitis C |
| Infectious work-up: CMV, HIV PCR | Infectious-associated thrombocytopenia |
| H pylori stool antigen/urea breath test | H pylori–associated thrombocytopenia |
| Flow cytometry for lymphocyte subsets | ALPS, WAS, CLL, HIV |
| ESR, CRP | SLE, other inflammatory causes |
| ANA, dsDNA | SLE, other inflammatory causes |
| Bone marrow aspirate/biopsy/cytogenetics | MDS, FA, CAMT, DC, SDS, CLL |
| Genetic testing: whole-genome sequencing vs specific panels | WAS, XLT, BSS, TAR, X-linked gray plt syndrome, disorders of filamin A, MYH9-RD, vWF type IIb, plt-type vWD, RUNX1 heterozygous, FA, CAMT, DC, SDS, MDS, ALPS |
| Telomere length | DC |
| DEB, MMC | FA |
| Stool elastase, trypsinogen | SDS |
| Serum trypsinogen, isoamylase | SDS |
| Plt aggregation | BSS, vWF type IIb, plt-type vWD, RUNX1 heterozygous |
| vWD panel | vWF type IIb, plt-type vWD |
| Diagnostic tests . | Possible diagnosis to be identified . |
|---|---|
| CBC with differential | Leukemia, Evans syndrome |
| Reticulocytes | FA, DC, SDS, MDS |
| Smear review | WAS, XLT, BSS, X-linked gray plt syndrome, gray plt syndrome, MYH9-RD, RUNX1 heterozygous, leukemia |
| Immunoglobulins (IgM, IgG, IgA) | CVID, WAS |
| Liver Function Tests | Hepatitis C |
| Infectious work-up: CMV, HIV PCR | Infectious-associated thrombocytopenia |
| H pylori stool antigen/urea breath test | H pylori–associated thrombocytopenia |
| Flow cytometry for lymphocyte subsets | ALPS, WAS, CLL, HIV |
| ESR, CRP | SLE, other inflammatory causes |
| ANA, dsDNA | SLE, other inflammatory causes |
| Bone marrow aspirate/biopsy/cytogenetics | MDS, FA, CAMT, DC, SDS, CLL |
| Genetic testing: whole-genome sequencing vs specific panels | WAS, XLT, BSS, TAR, X-linked gray plt syndrome, disorders of filamin A, MYH9-RD, vWF type IIb, plt-type vWD, RUNX1 heterozygous, FA, CAMT, DC, SDS, MDS, ALPS |
| Telomere length | DC |
| DEB, MMC | FA |
| Stool elastase, trypsinogen | SDS |
| Serum trypsinogen, isoamylase | SDS |
| Plt aggregation | BSS, vWF type IIb, plt-type vWD, RUNX1 heterozygous |
| vWD panel | vWF type IIb, plt-type vWD |
ANA, anti-nuclear antibody; BSS, CAMT, congenital amegakaryotic thrombocytopenia; CRP; C-reactive protein; DEB, diepoxybutane test; dsDNA, double-stranded DNA; ESR, erythrocyte sedimentation rate; MMC, mitomycin C; PCR, polymerase chain reaction; Plt/plt, platelets; RUNX1, RUNT-related transcription factor 1; SDS, Shwachman-Diamond syndrome; SLE, systemic lupus erythematosus; TAR, thrombocytopenia absent radii syndrome; vWD, von Willebrand disease; vWF, von Willebrand factor; WAS, Wiskott-Aldrich syndrome; XLT, X-linked thrombocytopenia