2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-High-resolution Analysis of Pathogenic Trinucleotide and Hexanucleotide Repeats, Copy Number Changes, SNVs and INDELs Using Flexible, Easy-to-use Fragment Sizing Instrumentation

High-resolution Analysis of Pathogenic Trinucleotide and Hexanucleotide Repeats, Copy Number Changes, SNVs and INDELs Using Flexible, Easy-to-use Fragment Sizing Instrumentation

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Pdf Summary

The study demonstrates that the AmplideX PCR/CE technology is effective in detecting difficult-to-resolve pathogenic variants, including triplet repeat alleles, hexanucleotide repeat alleles, STRs, SNVs, INDELs, and CNVs. The results show a high agreement (98.5% to 100%) between the AmplideX assays on both the 3500 Dx CE instrument and the SeqStudio Flex CE instrument. This expands the use of AmplideX PCR/CE genetic assays to the SeqStudio Flex instrument, which offers simplified maintenance and operation.<br /><br />The SeqStudio Flex CE instrument is capable of detecting a broad range of challenging pathogenic variants in different gene targets, including FMR1, C9orf72, CFTR, and SMN1/2. The instrument shows a high agreement in detecting normal, intermediate, pre-, and full mutation alleles for FMR1 and C9orf72, as well as different copy numbers of SMN1/2. It also demonstrates accurate detection of 65 unique CFTR variants.<br /><br />The study also identifies a data collection software defect that impacted the FMR1 results, but overall, the SeqStudio Flex instrument shows strong performance in analyzing challenging gene targets.<br /><br />In summary, the study confirms that the SeqStudio Flex CE instrument is compatible with the AmplideX PCR/CE assays, providing a user-friendly and reliable platform for detecting difficult-to-resolve pathogenic variants in various genes.

Asset Subtitle

Presenting Author - Adrian N. Adrian, BSc; Co-Author - Steven Partin, B.S.; Co-Author - Connor Parker, MS; Co-Author - John Hedges, PhD; Co-Author - John Milligan, PhD;

Meta Tag

Genetic Testing

Intellectual disability

Methodology

X-Inactivation/X-Linked Disease

Co-Author Steven Partin, B.S.

Co-Author Connor Parker, MS

Co-Author John Hedges, PhD

Co-Author John Milligan, PhD

Presenting Author Adrian N. Adrian, BSc

Keywords

AmplideX PCR/CE technology

difficult-to-resolve pathogenic variants

triplet repeat alleles

SeqStudio Flex CE instrument

gene targets

FMR1

C9orf72

CFTR

SMN1/2

user-friendly platform