Use

Carrier screening for spinal muscular atrophy (SMA), a progressive, neuromuscular genetic disease affecting motor nerve cells in the spinal cord and a leading cause of infant mortality. This test helps identify individuals—especially including silent carriers—who carry SMN1 gene mutations, enabling informed reproductive planning and early intervention. Quest’s version improves detection over conventional SMN1 copy-number screening by assessing arrangement of copies to detect silent carriers, enhancing actionable insights for reproductive risk assessment.