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Molecular Genetic Testing Approaches for Retinitis Pigmentosa

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Retinitis Pigmentosa

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2560))

Abstract

Retinitis pigmentosa (RP) affects approximately 1 in 4000 individuals. It has many different genetic etiologies and therefore diagnosis can be challenging. Understanding the different testing methodologies is beneficial for clinicians and researchers in order to select the best testing method, whether it be panel testing, whole exome sequencing, or whole genome sequencing for individuals affected with RP. The Methods section also outlines the steps required to complete a WES assay, which has become a popular method for identifying the molecular diagnosis for individuals with RP.

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Author information

Authors and Affiliations

  1. Columbia University Irving Medical Center, New York, NY, USA

    Megan Soucy

  2. Genetics and Genomics, Columbia University Irving Medical Center, New York, NY, USA

    Akemi Joy Tanaka

  3. Clinical Genomics, Department of Clinical Pathology, Children’s Hospital Los Angeles, Los Angeles, CA, USA

    Avinash Dharmadhikari

Authors
  1. Megan Soucy
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  2. Akemi Joy Tanaka
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  3. Avinash Dharmadhikari
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Corresponding author

Correspondence to Megan Soucy .

Editor information

Editors and Affiliations

  1. Departments of Ophthalmology, Pathology & Cell Biology Graduate Programs in Nutritional & Metabolic Biology and Neurobiology & Behavior, Columbia Stem Cell Initiative, New York, NY, USA

    Stephen H. Tsang

  2. Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA

    Peter M.J. Quinn

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© 2023 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature

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Soucy, M., Tanaka, A.J., Dharmadhikari, A. (2023). Molecular Genetic Testing Approaches for Retinitis Pigmentosa. In: Tsang, S.H., Quinn, P.M. (eds) Retinitis Pigmentosa. Methods in Molecular Biology, vol 2560. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-2651-1_4

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  • DOI: https://doi.org/10.1007/978-1-0716-2651-1_4

  • Published:

  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-2650-4

  • Online ISBN: 978-1-0716-2651-1

  • eBook Packages: Springer Protocols

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