Advancing excellence in laboratory medicine for better healthcare worldwide

Vol 18 n° 4

Expanding and improving the service  for testing single embryonic cells by preimplantation genetic haplotyping

Sara Ocaña López¹,Pamela Renwick²

¹ Pharmacist in Laboratory training inFundación Hospital Alcorcón. Madrid. Spain ² Deputy Director of the Regional DNA Laboratory, Genetics Centre, Guy's Hospital, London. 


The problem of having offspring with inherited diseases can be resolved in some cases through preimplantation genetic diagnosis (PGD). Spinal Muscular Atrophy (SMA) is one of these diseases. In my short term visit to Guy's Hospital in London, I set up a panel of markers which can be used for preimplantion genetic haplotyping in affected families with this pathology.

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