Enabling single-platform testing and carrier screening of the FMR1, SMN1/2, and CFTR gene trio

Carrier screening can provide valuable information for couples to help guide their reproductive decision-making. Screening studies have shown that as many as 1 in 20 individuals has pathogenic variants associated with at least 1 of 3 conditions: spinal muscular atrophy (SMA), fragile X syndrome (FXS), and cystic fibrosis (CF). Many of these conditions cause severe symptoms, and SMA and CF can lead to premature death. Early detection can both inform reproductive choices and offer early therapeutic intervention to help mitigate the most severe symptoms if implemented early enough in the course of disease progression.