描述

The PGD-SEQ COL1A1 Panel and Reagent Kit provides all the materials necessary to amplify single nucleotide variant (SNV) linkage markers used to resolve the parental mutated and healthy alleles flanking the COL1A1 gene locus in order to research monogenic disease specific to a particular family.
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 or Ion PGM 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 COL1A1 Panel and Reagent Kit include:
? PGT-M for osteogenesis imperfecta 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 PGT
Comprehensive content
The PGD-SEQ kits provide comprehensive coverage of common and rare diseases with >180 demonstrated disease gene panels available. In addition, custom designs can be ordered.
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 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.
Streamlined implementation
The PGT-M workflow begins by ordering the appropriate gene kit for the case. An informativity study is first performed by collecting DNA samples from both parents and additional family members for testing with the PGD-SEQ kit. The resulting embryos from an IVF cycle are biopsied and the samples analyzed using the PGD-SEQ kit and software. Following alignment and variant calling, the PGD-SEQ software is used for SNV phasing analysis to produce the final PGT-M report indicating whether the samples are affected, carrier, or unaffected.