Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions - 23/09/17
Doi : 10.1016/j.jpeds.2017.06.040
Hengameh Zahed, MD, PhD 1, Teresa N. Sparks, MD 1, 2, Ben Li, MD 1, 2, Adnan Alsadah, MD 1, Joseph T.C. Shieh, MD, PhD 1, 3, * 
1 Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA
2 Department of Obstetrics, Gynecology and Reproductive Medicine, University of California San Francisco, San Francisco, CA
3 Institute for Human Genetics, Benioff Children's Hospital San Francisco, University of California San Francisco, San Francisco, CA
*Reprint requests: Joseph T. C. Shieh, MD, PhD, Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143-0793.Department of PediatricsUniversity of California San FranciscoSan FranciscoCA94143-0793
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.
Il testo completo di questo articolo è disponibile in PDF.Keywords : secondary findings, gene panels, exome sequencing
Abbreviations : WES
Mappa
| Conflict of Interest: The authors declare no conflicts of interest. |
© 2017
Elsevier Inc. Tutti i diritti riservati.
Vol 189
P. 222 - ottobre 2017 Ritorno al numero
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