Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 28947054.
- Also identified by DOI 10.1016/j.jpeds.2017.06.040 and PMC identifier 6037534.
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Abstract
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.
Medical subject headings
- Genetic Diseases, Inborn
- Gitelman Syndrome
- Sequence Analysis, DNA