New Diagnostic Test for Inherited Disorders

26th May, 2015

Staff at Waterstone Clinic recently announced that an Irish couple, who have one daughter with mucolipidosis, a rare and life-limiting genetic condition, delivered a baby, Megan, unaffected by the condition as a result of pre-implantation genetic diagnosis (PGD).

It is the first reported incidence in the world of successful PGD using karyomapping in the case of mucolipidosis. Karyomapping is a new technique that has transformed the field of PGD due to its rapid and robust method of detecting a wide range of genetic diseases in embryos.

Chris Donoghue from Newstalk Breakfast recently interviewed the O’Connor’s, to listen to the interview click HERE

 
 

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