AmplideX PCR Technology for Genetic Variant Detection

This technical report presents the application of AmplideX PCR technology for the detection of challenging genetic variants associated with pathogenic repeats, structural variants, single nucleotide variants (SNVs), and insertions/deletions (INDELs). The study demonstrates the performance of AmplideX PCR assays on the Promega Spectrum Compact CE System, highlighting a 100% categorical agreement for pathogenic variants in FMR1, CFTR, SMN1/2 Plus, and C9orf72 when compared to results from the Applied Biosystems 3500 Dx CE instrument. The report outlines the methodology used, including PCR amplification and capillary electrophoresis (CE) analysis, and discusses the implications of these findings for broader access to genetic testing technologies. The results indicate that the Spectrum Compact CE System simplifies CE analysis while maintaining high performance for difficult gene targets, thus improving operational efficiency and reducing costs. The report also notes some observed biases in repeat sizing and suggests potential adjustments for enhanced precision in quality control.