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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection

Theriault, Mylene A.Université d'Ottawa / University of Ottawa2013

The development of new high throughput technologies able to multiplex disease biomarkers as well as advances in medical treatments has lead to the recent expansion of the newborn screening panel to include DNA-based targets. Four rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy …

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