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Updated: Feb 12, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Expanding and Improving the Service for Testing Single Embryonic Cells by Preimplantation Genetic Haplotyping
Sara Ocaña López1, Pamela Renwick2
1Pharmacist in Laboratory training in Fundación Hospital Alcorcón. Madrid. Spain.
Abstract:
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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