Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome.

ABSTRACT: Background/Objectives: Genetic abnormalities are critical for the diagnosis, prognosis, and therapeutic management of myelodysplastic syndromes (MDS). This study aims to evaluate the clinical utility of Multiplex Ligation-dependent Probe Amplification (MLPA) as a rapid and cost-effective method, determining its place alongside Next-Generation Sequencing (NGS) for the initial genetic assessment of patients with MDS. Methods: Bone marrow samples from 68 patients newly diagnosed with MDS were analyzed. Genomic DNA was investigated using the SALSA MLPA P414-C1 MDS probe mix to detect common copy number variations (CNVs). Results: MLPA detected genetic variants in 25 patients (36.8%). The most common finding was a single chromosomal abnormality (26.5%). Multiple pathologica

SUBMITTER: Valeva R 

PROVIDER: S-EPMC12731077 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature