Molecular Genetic Testing Approaches for Retinitis Pigmentosa

Megan Soucy; Akemi Joy Tanaka; Avinash Dharmadhikari

doi:10.1007/978-1-0716-2651-1_4

Molecular Genetic Testing Approaches for Retinitis Pigmentosa

Methods Mol Biol. 2023:2560:41-66. doi: 10.1007/978-1-0716-2651-1_4.

Authors

Megan Soucy¹, Akemi Joy Tanaka², Avinash Dharmadhikari³

Affiliations

¹ Columbia University Irving Medical Center, New York, NY, USA. mes2350@cumc.columbia.edu.
² Genetics and Genomics, Columbia University Irving Medical Center, New York, NY, USA.
³ Clinical Genomics, Department of Clinical Pathology, Children's Hospital Los Angeles, Los Angeles, CA, USA.

PMID: 36481882
DOI: 10.1007/978-1-0716-2651-1_4

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.

Keywords: Next-generation sequencing; Retinitis pigmentosa; Whole exome sequencing whole genome sequencing.

MeSH terms

Humans
Molecular Biology
Retinitis Pigmentosa* / diagnosis
Retinitis Pigmentosa* / genetics