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Feasibility and Efficacy of Same-Day, In-Office Genetic Testing for Inherited Retinal Diseases.

J D WilguckiParker J WilliamsEllie WestfallNieraj JainJiong Yan
Published in: Journal of vitreoretinal diseases (2019)
In-office genetic testing is a novel practice pattern that provides a more consistent and accessible method for IRD genetic diagnosis. Compared with an out-of-office referral for genetic testing, in-office genetic testing offers a similar rate of causative gene mutation identification but a greatly higher rate of test completion, therefore potentially offering a much higher yield for genetic diagnosis of IRDs.
Keyphrases
  • primary care
  • genome wide
  • healthcare
  • optical coherence tomography
  • diabetic retinopathy
  • copy number
  • dna methylation