genetic testing

Accurate genetic testing ‘crucial’ for early diagnosis of SMA: Report

The use of advanced genetic testing techniques helped clinicians in China to identify novel mutations in the SMN1 gene in two unrelated children — and thus correctly diagnose them…

Low-cost method may quickly spot carriers of SMA-causing mutations

Researchers in China report having developed a way to quickly and more easily screen for people who carry SMN1 gene mutations associated with spinal muscular atrophy (SMA). This method showed high accuracy for correctly identifying both those who are and are not carriers of SMA-causing mutations, compared with…