Laboratory Corporation of America Holdings
Methods, Compositions, and Systems for Detecting Silent Carriers of Spinal Muscular Atrophy

Abstract:

The present disclosure relates to methods, compositions, and systems for detecting silent carriers of spinal muscular atrophy (SMA). In some embodiments, the invention comprises a method for identifying a subject as a silent carrier of SMA. The method may comprise obtaining a nucleic acid sample from a subject. The method may further comprise analyzing the nucleic acid sample, wherein analyzing the nucleic acid sample comprises detecting the presence or absence of a target gene amplification product. The method may further comprise characterizing the subject as a silent carrier of SMA if the target gene amplification product is present. Also disclosed are systems and kits for carrying out embodiments of the methods or using the compositions disclosed herein.