Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing

Spinal muscular atrophy (SMA) is an autosomal recessive disorder predominately caused by bi-allelic loss of the SMN1 gene. Increased copies of SMN2, a low functioning nearly identical paralog, is associated with a less severe phenotype. SMA was recently recommended for inclusion in newborn screening. Clinical laboratories must accurately measure SMN1 and SMN2 copy number to identify SMA patients and carriers, and to identify individuals likely to benefit from therapeutic interventions. Having publicly available and appropriately characterized reference materials with various combinations of SMN1 and SMN2 copy number variants is critical to assure accurate SMA clinical testing.

Source: Journal of Molecular Diagnostics - November 13, 2020 Category: Pathology Authors: Thomas W. Prior, Pinar Bayrak-Toydemir, Ty C. Lynnes, Rong Mao, James D. Metcalf, Kasinathan Muralidharan, Aiko Iwata-Otsubo, Ha T. Pham, Victoria M. Pratt, Shumaila Qureshi, Deborah Requesens, Junqing Shen, Francesco Vetrini, Lisa Kalman Tags: Regular article Source Type: research