Thermo Fisher Scientific PGD-SEQ CFTR Panel and Reagent Kit

Thermo Fisher Scientific PGD-SEQ™ CFTR Panel and Reagent Kit

The PGD-SEQ™ CFTR 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 CFTR gene locus for monogenic disease research 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)
• Preimplantation genetic testing for aneuploidies (PGT-A)
  Both analyses can be performed in the same next-generation sequencing (NGS) run.

PGD-SEQ kits are designed to overcome allelic drop-out and maximize identification of inherited conditions in research labs using embryo biopsy samples.

Key Benefits

• PGT-M for cystic fibrosis using embryo biopsy samples
• Optimized assay kits and software enable PGT-M in most labs
• Improved lab efficiency 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 are an efficient end-to-end solution including reagents based on Ion AmpliSeq™ technology for target amplification and library preparation, and software for data analysis. The reagents are optimized to work together and are ready to use with Ion ReproSeq™ PGS kits for template preparation and sequencing, enabling rapid combined PGT-M and PGT-A with turnaround times suitable for fresh embryo transfers.

Streamlined Implementation

The PGT-M workflow begins by ordering the appropriate gene kit for the case:

1. Perform an informativity study by collecting DNA samples from both parents and additional family members for testing with the PGD-SEQ kit.
2. Biopsy embryos from an IVF cycle and analyze the samples using the PGD-SEQ kit and software.
3. Following alignment and variant calling, the PGD-SEQ software performs SNV phasing analysis to produce the final PGT-M report indicating whether samples are affected, carrier, or unaffected.

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