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Inherited Retinal Disease

No-charge panel testing may be beneficial in diagnosing inherited retinal diseases

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No-charge, open-access genetic testing had a reasonable diagnostic yield in inherited retinal diseases (IRD), according to a study.

In this retrospective cohort study, samples were collected from 59 patients clinically diagnosed with IRD who had testing via the Invitae IRD Panel.

It took a mean of 20 days (range, 14-28 days) after submission for testing results to be returned. Overall, 50.8% (30/59) had a diagnostic yield, with 46.4% (13/28) in nonsyndromic retinitis pigmentosa (RP), 50.0% (4/8) in syndromic RP, 46.2% (6/13) in macular dystrophies, 75% (3/4) in cone or cone-rod dystrophies, and 80.0% (4/5) in other retinopathies.

Of the 47.5% of patients (28/59) whose results were undetermined, 5.1% (3/59) was because of the identification of only 1 recessive mutation, 13.6% (8/59) was because of 1 recessive mutation and at least 1 variant of uncertain significance, and 28.8% (17/59) was because of variant uncertain significance only.

Negative testing results for one patient showed no mutations or variant of uncertain significance identified.

Reference
McClard CK, Pollalis D, Jamshidi F, et al. Utility of No-Charge Panel Genetic Testing for Inherited Retinal Diseases in a Real-World Clinical Setting. J Vitreoretin Dis. 2022;6(5):351-357. doi: 10.1177/24741264221100936. Epub 2022 Aug 25. PMID: 36213299; PMCID: PMC9542391.

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