Traditional newborn screening (tNBS) for inborn errors of metabolism (IEMs) and deafness has limitations, including the detection of few genetic disorders and variants, high false-positive rates, and
Marked regional variations in the prevalence of sickle cell disease and β-thalassemia in Saudi Arabia: findings from the premarital screening and genetic counseling program
A total of 366 carriers of target diseases were identified, yielding a carrier rate of 50.00% (366/732). A cumulative total of 508 pathogenic/likely pathogenic (P/LP) variants were detected, with an a
