Article
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.
The Journal of molecular diagnostics : JMD - 1 Jan 2021
Prior Thomas W, Bayrak-Toydemir Pinar, Lynnes Ty C, Mao Rong, Metcalf James D, Muralidharan Kasinathan, Iwata-Otsubo Aiko, Pham Ha T, Pratt Victoria M, Qureshi Shumaila, Requesens Deborah, Shen Junqing, Vetrini Francesco, Kalman Lisa
Abstract excerpt
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, are 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,...
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