Thermo Fisher Scientific PGD-SEQ HBA1/HBA2 Panel and Reagent Kit

Thermo Fisher Scientific PGD-SEQ™ HBA1/HBA2 Panel and Reagent Kit

The PGD-SEQ HBA1/HBA2 Panel and Reagent Kit provides all materials necessary to amplify single nucleotide variant (SNV) linkage markers used to resolve parental mutated and healthy alleles flanking the HBA1/HBA2 gene locus for research on monogenic diseases specific to a particular family.

PGD-SEQ kits enable simultaneous detection of informative SNVs surrounding pathogenic variants such as:

• Single nucleotide variants (SNVs)
• Insertion/deletions (INDELs)
• Copy number variants (CNVs)
• Triplet repeat expansion mutations

With dozens of markers, the PGD-SEQ approach reduces mistyping risk 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.

Workflow Integration

When used with Ion GeneStudio S5 Series or Ion PGM™ sequencing systems, PGD-SEQ kits enable a simple, end-to-end workflow supporting:

• Preimplantation genetic testing for monogenic/single-gene defects (PGT-M)
• Preimplantation genetic testing for aneuploidies (PGT-A)

These 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 alpha thalassemia using embryo biopsy samples
• Optimized assay kits and software enabling PGT-M in most labs
• Improved lab efficiency in time and cost for PGT

Comprehensive Content

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.

These kits include reagents employing Ion AmpliSeq™ technology for target amplification and library preparation, plus software for data analysis.
They are optimized to work seamlessly with Ion ReproSeq™ PGS kits, 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 an informativity study using DNA samples from both parents and family members.
3. Biopsy embryos from an IVF cycle and analyze samples using PGD-SEQ kit and software.
4. Align and call variants, then use PGD-SEQ software for SNV phasing analysis to generate the final PGT-M report indicating affected, carrier, or unaffected status.

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