Key result
One-step SMN assay via MALDI-TOF MS provides efficient, validated newborn screening for spinal muscular atrophy.
A novel one-step SMN assay using MALDI-TOF MS offers a cost-effective and time-efficient approach for the clinical diagnosis and newborn screening of spinal muscular atrophy.
May facilitate efficient SMA screening; leaves open prospective clinical validation before adoption.
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Xing et al. (2024) studied this question. A one-step SMN assay via MALDI-TOF MS was validated for spinal muscular atrophy genetic testing in a single analytical run, offering a cost-effective and efficient method for newborn screening.
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