Figure 1.
Design of the Agena iPLEX spinal muscular atrophy (SMA) assay. The iPLEX assay consists of a target-specific PCR reaction, followed by single-base extension using molecular weight-modified dideoxynucleotide terminators of an extension primer which anneals immediately upstream of the polymorphic site of interest two well-known positions of SMN1 and SMN2 genes (c.840 and c.1155) were used as targets for designing PCR and single-base extension primers. Black and blue colors indicate multiplex PCR and extension primers, respectively.