JAK2 and myelodysplastic syndrome: While MLPA is highly efficient in detecting large CNVs, and specialized kits may include probes for specific point mutations (e.g., the JAK2 p.V617F mutation in our assay), the P414-C1 MDS kit does not cover the full panel of key prognostic point mutations (e.g., TP53, ASXL1, RUNX1) [20,28], which are essential for modern risk scoring systems such as IPSS-M [29,30,31].