Karyomapping—A Rapid PGD Solution for Single-Gene Disorders

Karyomapping—A Rapid PGD Solution for Single-Gene Disorders

Topic: Reproductive & Genetic Health : Customer

Preimplantation Genetic Diagnosis (PGD) can be used where there is a risk of severe genetic disorders being inherited from parents, whether the couple has a family history of a genetic disorder or has a child affected by a genetic disease. Currently, PGD is often performed by examining the inheritance of short tandem repeats (STRs) adjacent to specific disease loci. Unfortunately, this method is complex and must be developed individually for each genetic disorder and each couple, making it time-consuming and limiting availability.

Karyomapping offers a faster, more accurate, and robust alternative to STR analysis for PGD. Using genome-wide linkage-based analysis, karyomapping detects single-gene disorders from as little as a single embryonic cell. Embryos that do not carry the defective gene can be identified and selected for transfer and subsequent implantation.

Join Professor Alan Handyside, one of the pioneers of karyomapping, and Dr. Alan Thornhill as they introduce the Illumina karyomapping solution, including the Infinium HumanKaryomap-12 BeadChip. This karyomapping assay targets ~300,000 of the most informative genomic markers resulting in comprehensive genome-wide analysis at the single-cell level.

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