Description
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PGD-SEQ kits enable simultaneous detection of informative SNVs surrounding pathogenic variants such as SNVs, insertion/deletions (INDELs), copy number variants (CNVs), and triplet repeat expansion mutations. With dozens of markers, the PGD-SEQ approach reduces the risk of mistyping due to allelic dropout and can be used to classify each sample as affected, carrier, or unaffected. In addition, direct targeting of SNV or INDEL pathogenic variants can be included in the linkage marker assay.When used with Ion GeneStudio S5 Series sequencing systems, PGD-SEQ kits enable a simple, end-to-end workflow that includes preimplantation genetic testing for monogenic/single-gene defects (PGT-M) and preimplantation genetic testing for aneuploidies (PGT-A) in the same next-generation sequencing (NGS) run. PGD-SEQ kits are genetic tests specifically designed to overcome allelic drop-out and maximize the identification of an inherited condition by research labs using embryo biopsy samples.Benefits of the PGD-SEQ SMN1 Panel and Reagent Kit include:
• PGT-M for spinal muscular atrophy (SMA) using embryo biopsy samples
• Optimized assay kits and software enables PGT-M in most labs
• Improved lab efficiencies in terms of time and expense for PGTComprehensive contentThe PGD-SEQ kits provide comprehensive coverage of common and rare diseases with >700 demonstrated disease gene panels available. In addition, custom designs can be ordered. Please note that sequencing reagents for the Ion GeneStudio S5 System need to be purchased separately.PGD-SEQ kits are an efficient end-to-end solution that includes reagents that employ Ion AmpliSeq technology for target amplification and library preparation and that include Journey GENOMICS™ ReproHealth Nexus Software for data analysis. The reagents are optimized to work together out of the box and are ready to use with Ion ReproSeq PGS kits for template preparation and sequencing, enabling rapid combined PGT-M and PGT-A with a results turnaround time suitable for fresh embryo transfers.Two primer poolsTwo primer pool designs are available for a number of conditions. Two primer pools offer sequencing of full coding and untranslated regions.Streamlined implementationThe PGD-SEQ workflow begins with a conversation with our partners at Journey Genomics, S.L., to determine the appropriate gene kit for the variant of interest.An informative study is performed by gathering DNA samples from both parents and other family members, which are then tested using the PGD-SEQ kit. Embryos produced from an IVF cycle are biopsied, and the samples are analyzed using the PGD-SEQ kit and software in combination with the Ion Torrent sequencer.After alignment and variant calling, the Journey Genomics ReproHealth Nexus Software performs SNV phasing analysis to generate the final PGT-M report, indicating whether the samples are affected, carriers, or unaffected.
