Karyomapping / ultraPGD

Karyomapping: Fast, Efficient PGD

What is Karyomapping?

Since the first successful PGD case 20 years ago, in which Genesis Genetics founder Dr. Mark Hughes was integral, PGD has largely been performed in the same way. “Traditional” PGD requires a customized test to be developed for the unique DNA of each family; a process that can be extremely time consuming and to achieve maximum effectiveness, requires specialist knowledge. Genesis Genetics is the world’s leading expert in traditional PGD, having successfully analyzed thousands of IVF embryos, for more diseases, than any other laboratory world-wide.

Genesis Genetics is proud to bring this unrivaled experience and knowledge in Preimplantation Genetics to the next level in human genome technology – Karyomapping. Karyomapping is also know as ultraPGD in the the USA.

Karyomapping advantages

  • Fastest test development turnaround time —no lengthy test development required
  • Powerful technology applicable to all single gene disorders yet licensed by the HFEA
  • Cost effective testing
  • Only a simple cheek brush swab sample needed from key family members (no blood sample necessary)
  • Combine single-gene Karyomapping with comprehensive chromosome screening (also known as PGS), for maximum chances of a healthy live birth and/or to match a bone marrow transplant recipient
  • Available across the comprehensive Genesis Genetics partner clinic network
  • Utilises industry leading technology and software from Illumina

How does the Karyomapping process work?

  • Your IVF physician will contact Genesis Genetics to confirm that testing is possible for your hereditary condition
  • A genetic mutation report is required to document the specific gene mutation(s) in your family
  • Cheek brush swabs are obtained from the female patient, reproductive partner, and a relative of known disease status, in most instances a child of the parents
  • Once our genetic counselor confirms that your case enrollment is complete, we will be able to confirm whether Karyomapping is suitable for your specific family within two weeks
  • A PGD test report detailing the mutation status of your embryos is available within one week of receipt of your embryo biopsy samples
  • Karyomapping requires embryo biopsy on “day 5” (with embryo freezing) since this IVF method provides the best quality test.
  • Day3 biopsy and traditional PGD remain available alternatives to Karyomapping, although this requires 12-16 weeks for customized DNA test development.

Karyomapping is not suitable for chromosomal translocation PGD.

Karyomapping is not recommended for day3 biopsy since a single day 3 biopsy cell does not produce data of sufficient quality to be used accurately for PGD.

Talk to your IVF doctor about how Karyomapping can help build healthy families


About Us

Genesis Genetics is the pioneer of preimplantation testing of embryos for inherited genetic abnormalities, and was founded by world renowned scientists largely responsible for discovering preimplantation genetic diagnosis (PGD) as a clinical practice and performed the first successful cases in the world.


Contact Genesis Genetics

London Biosciences Innovation Centre
London NW1 0NH
Phone: +44 (0)20 7691 2084
Email: ggeulab1@genesisgenetics.org
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