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Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.
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https://doi.org/10.1016/j.jpeds.2017.06.040Abstract
We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review the potential of genomic sequencing for early disease detection.
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