Thermo Fisher Scientific PGD-SEQ COL1A1 Panel and Reagent Kit

Thermo Fisher Scientific PGD-SEQ COL1A1 Panel and Reagent Kit

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 for research into monogenic diseases 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 classify each sample as affected, carrier, or unaffected. Direct targeting of SNV or INDEL pathogenic variants can also 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. These kits are designed to overcome allelic drop-out and maximize identification of inherited conditions using embryo biopsy samples.

Benefits

• PGT-M for osteogenesis imperfecta using embryo biopsy samples
• Optimized assay kits and software enable PGT-M in most labs
• Improved lab efficiencies in time and cost for PGT

Comprehensive Content

The PGD-SEQ kits provide comprehensive coverage of common and rare diseases with over 180 demonstrated disease gene panels available. Custom designs can also be ordered.

PGD-SEQ kits include reagents employing Ion AmpliSeq™ technology for target amplification and library preparation, along with software for data analysis. The reagents are optimized to work together and are compatible with Ion ReproSeq PGS kits for template preparation and sequencing, enabling rapid combined PGT-M and PGT-A suitable for fresh embryo transfers.

Streamlined Implementation

1. Order the appropriate gene kit for the case.
2. Perform informativity studies using DNA samples from both parents and family members.
3. Biopsy embryos from an IVF cycle and analyze samples using the PGD-SEQ kit and software.
4. Align and call variants, then perform SNV phasing analysis to produce the final PGT-M report indicating affected, carrier, or unaffected status.

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