Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions

Hengameh Zahed; Teresa N Sparks; Ben Li; Adnan Alsadah; Joseph T C Shieh

doi:10.1016/j.jpeds.2017.06.040

Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions

J Pediatr. 2017 Oct:189:222-226.e1. doi: 10.1016/j.jpeds.2017.06.040.

Authors

Hengameh Zahed¹, Teresa N Sparks², Ben Li², Adnan Alsadah¹, Joseph T C Shieh³

Affiliations

¹ Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA.
² Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA; Department of Obstetrics, Gynecology and Reproductive Medicine, University of California San Francisco, San Francisco, CA.
³ Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA; Institute for Human Genetics, Benioff Children's Hospital San Francisco, University of California San Francisco, San Francisco, CA. Electronic address: shiehj2@humgen.ucsf.edu.

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.

Keywords: exome sequencing; gene panels; secondary findings.

Publication types

Case Reports

MeSH terms

Adolescent
Child
Child, Preschool
Early Diagnosis
Genetic Diseases, Inborn / diagnosis*
Genetic Testing / methods
Gitelman Syndrome / diagnosis*
Humans
Male
Sequence Analysis, DNA / methods*

Grants and funding

K12 HD001262/HD/NICHD NIH HHS/United States