Validation of SMA screening kits with SMN1 gene analysis in a Turkish cohort

CONCLUSIONS: The qRT-PCR method proved to be a rapid, cost-effective, and accurate technique, aligning well with the demands of routine SMA screening, suggesting its general suitability for application in SMA screening programs. This research highlights the importance of improving molecular methodologies and the value of collaborations between government and relevant sectors to overcome rare diseases, particularly through the enhancement of screening initiatives which is the first and most effective strategy to protect the public health.PMID:38309554 | DOI:10.1016/j.cca.2024.117793
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Source Type: research