1:40 to 1:60 are symptomless carriers of Spinal Muscular Atrophy (SMA), an inherited life-threatening condition affecting the neuromuscular system. It is one of the more common fatal hereditary childhood diseases.
American College of Medical Genetics and Genomics (ACMG) recommends offering SMA screening to all patients, regardless of ethnicity.
Screening results inform patients of their carrier status and can help guide decision-making for patients who are pregnant, planning a pregnancy or considering fertility options.
Carrier testing detects most SMN deletions. SMN is deleted in 95% of individuals with SMA.