Article
The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth.
Clinical chemistry and laboratory medicine - 27 Nov 2017
Cariati Federica, Savarese Maria, D'Argenio Valeria, Salvatore Francesco, Tomaiuolo Rossella
Abstract excerpt
BACKGROUND: The development of technologies that detect monogenic diseases in embryonic and fetal samples are opening novel diagnostic possibilities for preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) thereby changing laboratory practice. Molecular diagnostic laboratories use different workflows for PND depending on the disease, type of biological sample, the presence of one or more known...
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