Bone marrow aspiration with iron stain + biopsy + cytogenetics by standard karyotyping. Recommend testing bone marrow sample with reticulin stain for fibrosis.
Myeloid NGS panel
Serum erythropoietin (EPO) (prior to red blood cell [RBC] transfusion)
Serum or RBC folate and vitamin B12 evaluatione
Serum ferritin, iron, total iron-binding capacity (TIBC)
Documentation of transfusion history
Thyroid-stimulating hormone (TSH)
Lactate dehydrogenase (LDH)
2.2 NGS-testing for MDS
NGS myeloid mutation panel testing should be considered a medically necessary component of the diagnostic workup for suspected MDS, not a discretionary or supplemental test. Current NCCN guidelines (v2.2025) list next-generation sequencing myeloid mutation panels alongside morphology, cytogenetics, and flow cytometry as core inputs for diagnosis and stratification. The 2022 WHO and ICC classifications incorporate specific mutations (e.g., SF3B1, biallelic TP53) into diagnostic criteria, and calculation of the IPSS-M risk score, now the preferred prognostic model, requires NGS-derived mutation data as an input. Coverage policies that exclude or restrict NGS at diagnosis are inconsistent with these standards and may prevent accurate diagnosis, risk stratification, and treatment selection.
2.3 Peripheral blood vs bone marrow NGS testing for MDS