Suggested initial laboratory evaluation of hypocellular marrow failure
| Study . | Source . | Diagnosis . | Implications for treatment . |
|---|---|---|---|
| Peripheral blood | |||
| Flow cytometry for PNH | PB | aAA | IST |
| Chromosomal breakage testing | PB | FA | HSCT Modified conditioning |
| Telomere lengths by flow-FISH | PB | STS | HSCT Modified conditioning |
| Immunoglobulins, lymphocyte subsets, natural killer cell function | PB | Inborn error of immunity, GATA2 deficiency syndrome, XLP | HSCT Modified conditioning Infection prophylaxis |
| Pancreatic isoamylase | PB | SDS | |
| HLA typing on patient and full siblings | PB | Severe aAA or MDS | HSCT Donor testing |
| Bone marrow | |||
| Morphologic review of marrow | BM | MDS, GATA2 deficiency—megakaryocytic atypia | |
| Routine karyotype | BM | MDS, IBMFS/MMP | HSCT |
| FISH including −7/del, −5/del, +8, del(q20) | BM | MDS, IBMFS/MMP | HSCT |
| Chromosome genomic array | BM | 6p CN-LOH in aAA; germline CNAs in IBMFS/MMP; risk stratification of NK MDS, 7q LOH in SAMD9/9L disorders | |
| Somatic multigene genetic testing for mutations in myeloid malignancy genes | BM | See text for complexities | |
| Cultured skin fibroblasts | |||
| Germline multigene genetic testing | Fibroblasts* | IBMFS/MMP | HSCT Modified conditioning Donor testing |
| Study . | Source . | Diagnosis . | Implications for treatment . |
|---|---|---|---|
| Peripheral blood | |||
| Flow cytometry for PNH | PB | aAA | IST |
| Chromosomal breakage testing | PB | FA | HSCT Modified conditioning |
| Telomere lengths by flow-FISH | PB | STS | HSCT Modified conditioning |
| Immunoglobulins, lymphocyte subsets, natural killer cell function | PB | Inborn error of immunity, GATA2 deficiency syndrome, XLP | HSCT Modified conditioning Infection prophylaxis |
| Pancreatic isoamylase | PB | SDS | |
| HLA typing on patient and full siblings | PB | Severe aAA or MDS | HSCT Donor testing |
| Bone marrow | |||
| Morphologic review of marrow | BM | MDS, GATA2 deficiency—megakaryocytic atypia | |
| Routine karyotype | BM | MDS, IBMFS/MMP | HSCT |
| FISH including −7/del, −5/del, +8, del(q20) | BM | MDS, IBMFS/MMP | HSCT |
| Chromosome genomic array | BM | 6p CN-LOH in aAA; germline CNAs in IBMFS/MMP; risk stratification of NK MDS, 7q LOH in SAMD9/9L disorders | |
| Somatic multigene genetic testing for mutations in myeloid malignancy genes | BM | See text for complexities | |
| Cultured skin fibroblasts | |||
| Germline multigene genetic testing | Fibroblasts* | IBMFS/MMP | HSCT Modified conditioning Donor testing |
Studies recommended in all patients are bolded.
When clinically possible, cultured skin fibroblasts are the recommended DNA source for germline testing.
BM, bone marrow aspirate; NK, normal karyotype; PB, peripheral blood; PNH, paroxysmal nocturnal hemoglobinuria.