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Tag: rWGS test

Rady Children’s Institute for Genomic Medicine is excited to announce that the current version of our rWGS/urWGS test is now validated to include identification of repeat expansions in the PHOX2B gene, associated with Congenital Central Hypoventilation Syndrome (CCHS), and in the DMPK gene, associated with Myotonic Dystrophy Type 1 (DM1).

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