1 in 35 people
SMA Carrier Test
SMA (Spinal Muscular Atrophy) is a neuromuscular disorder caused by changes in the SMN1 gene and can affect mobility to varying degrees depending on its severity. SMA is one of the most common rare diseases; in Türkiye, the carrier frequency is approximately 1 in 35. SMA is largely preventable through targeted screening programs. Although treatment options exist, they are often very costly and therapeutic outcomes are not always definitive. As with many rare diseases, the most effective strategy is genetic testing before pregnancy—especially for couples with a family history. In addition, population-based screening before marriage is a highly effective preventive measure. Identifying carriers provides the basis for informed genetic counseling and the opportunity to have healthy children.