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24sure screen is used in conjunction with mutation screening for a rare genetic disorder


24sure screen is used in conjunction with mutation screening for a rare genetic disorder at Genomedica in Greece

Genomedica, one of the largest private molecular biology and genetics laboratories in Greece, announced today that they have used BlueGnome’s 24sure platform to complete preimplantation genetic screening (PGS) for chromosomal aneuploidy following preimplantation genetic diagnosis (PGD) within the same, fresh cycle.

The family, who already has one child affected with Joubert syndrome (JS), opted for PGD in order to ensure any future children were unaffected by JS; a rare clinical disorder that affects the development of the cerebellum in the embryo, resulting in poor balance and ataxia. “Although JS was the main reason for PGD in this case”, commented Dr. Harry Kontos, the Director and Founder of Genomedica, “we also wanted to maximise the family’s chance of a successful pregnancy by using 24sure to perform PGS to rule out any aneuploidies”.

The laboratory performed a PCR based screen for the JS mutation in less than 10 hours on whole-genome amplified DNA from day 3 blastomere biopsies, immediately followed by 24sure screening on the 3 unaffected embryos, one of which was found to not to be viable due to a trisomy of chromosome 15. The biopsy and implantation procedures were carried out at Embryogenesis, one of the largest Assisted Reproduction Clinics in Greece, by Dr. Mastrominas.

“We believe we are the first laboratory in Greece to have performed 2 tests, the PGD mutation screen for a rare syndrome and PGS for chromosomal aneuploidy, back-to-back in less than 36 hours. We now plan to offer this service more widely to other centres”, said Dr. Kontos. “Through our work with several paediatricians, we screen for mutations in relatively rare disorders, such as tuberous sclerosis, hypocerebellar hypoplasia and others. All of these can be done at PGD level in conjunction with 24sure, now that we have shown that it is possible in the given time frame.

Commenting on the development Nick Haan, CEO of BlueGnome, said “the work at Genomedica is at the very cutting edge of research into the management of inherited genetic disorders. By successfully completing two different tests in a 36 hour period Dr Kontos and his team have further demonstrated the benefit of PGS results being available in as little as 12 hours.”

About BlueGnome
BlueGnome (www.24suretest.com) is a specialist developer of microarray based solutions for the screening of chromosomal abnormalities in cytogenetics and IVF.  For further information please contact:  BlueGnome Ltd, Mill Court, Great Shelford, Cambridge, CB22 5LD, UK. T: +44 1223 844441 F: +44 1223 844445  E: This e-mail address is being protected from spambots. You need JavaScript enabled to view it

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