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Genomic Applications in Inherited Genetic Disorders

  • Bryan L. Krock
  • Rong Mao
  • Tatiana Tvrdik
  • D. Hunter Best
  • Elaine LyonEmail author
Chapter

Abstract

Next-generation sequencing (NGS) technology has revolutioned clinical diagnostics for inherited disorders. The paradigm shift driven by NGS is rooted in its fundamental advances over Sanger sequencing, primarily its ultrahigh throughput and significantly lower cost per base of sequence. These enhanced capabilities have enabled clinical laboratories to go from testing single genes to simultaneously sequencing tens, hundreds, and thousands of genes, even the whole human genome. This dramatic leap in capabilities has yielded dramatic success stories but is also accompanied by numerous new challenges that will face the field for years to come. Despite its relatively recent emergence, NGS has become the primary diagnostic methodology in academic and commercial laboratories, which are continuing to expand the applications of this technology at a rapid pace. Indeed, it is clear that NGS-based genetic tests are applicable to inherit disorders in all stages of life, from preconception carrier screening to diagnosis of fetal, infant, young child, and adult-onset disorders. This chapter presents a brief description of NGS panels, exome, and whole-genome tests for germline variations and discusses their current clinical applications.

Keywords

Gene panels Exome Genome Noninvasive testing Adult-onset Screening Epilepsy Skeletal dysplasia Cardiomyopathy Aortopathies Diagnostic odyssey 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2019

Authors and Affiliations

  • Bryan L. Krock
    • 1
  • Rong Mao
    • 2
  • Tatiana Tvrdik
    • 2
  • D. Hunter Best
    • 2
  • Elaine Lyon
    • 2
    Email author
  1. 1.The Children’s Hospital of Philadelphia Division of Genomic Diagnostics, Perelman School of Medicine at the University of Pennslyvania, Department of Pathology and Laboratory MedicinePhiladelphiaUSA
  2. 2.ARUP Laboratories, Department of PathologyUniversity of Utah School of MedicineSalt Lake CityUSA

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