{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:59:18Z","timestamp":1760147958855,"version":"build-2065373602"},"reference-count":29,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T00:00:00Z","timestamp":1679011200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"J Arch McNamara Research"},{"name":"Research to Prevent Blindness"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Importance: The options for genetic testing continue to grow for ocular conditions, including optic atrophy, anterior segment dysgenesis, cataracts, corneal dystrophy, nystagmus, and glaucoma. Gene panels can vary in content and coverage, as we and others have evaluated in inherited retinal disease (IRD). Objective: To describe gene panel testing options for inherited eye disease phenotypes and their differences. This review is important for making diagnostic decisions. Evidence review: A licensed, certified genetic counselor (RP) used Concert Genetics and the search terms optic atrophy, corneal dystrophy, cataract, glaucoma, anterior segment dysgenesis, microphthalmia\/anophthalmia, and nystagmus to identify available testing options performed by CLIA-certified commercial genetic testing laboratories. Other co-authors were surveyed with respect to genetic panels used for the indications of interest. Ophthalmic panels were then compared using Concert Genetics in addition to their own websites. Findings: Panels from each clinical category were included and summarized. This comparison highlighted the differences and similarities between panels so that clinicians can make informed decisions. Conclusions: Access to genetic testing is increasing. The diagnostic yield of genetic testing is increasing. Each panel is different, so phenotyping or characterizing clinical characteristics that may help predict a specific genotype, as well as pre-test hypotheses regarding a genotype, should shape the choice of panels.<\/jats:p>","DOI":"10.3390\/genes14030738","type":"journal-article","created":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T04:10:48Z","timestamp":1679026248000},"page":"738","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Comparing Gene Panels for Non-Retinal Indications: A Systematic Review"],"prefix":"10.3390","volume":"14","author":[{"given":"Rebecca","family":"Procopio","sequence":"first","affiliation":[{"name":"Wills Eye Hospital, Philadelphia, PA 19107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose S.","family":"Pulido","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital, Philadelphia, PA 19107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kammi B.","family":"Gunton","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital, Philadelphia, PA 19107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeba A.","family":"Syed","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital, Philadelphia, PA 19107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Lee","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital, Philadelphia, PA 19107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark L.","family":"Moster","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital, Philadelphia, PA 19107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Sergott","sequence":"additional","affiliation":[{"name":"Wills Eye Hospital, Philadelphia, PA 19107, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie A.","family":"Neidich","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology, Washington University\/Saint Louis Children\u2019s Hospital, St. Louis, MO 63110, USA"},{"name":"Department of Pediatrics, Washington University\/Saint Louis Children\u2019s Hospital, St. Louis, MO 63110, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret M.","family":"Reynolds","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Washington University\/Saint Louis Children\u2019s Hospital, St. Louis, MO 63110, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/IAE.0000000000003319","article-title":"Inherited Retinal Disease Panels\u2014Caveat Emptor \u2014Truly Know Your Inherited Retinal Disease Panel","volume":"42","author":"Pulido","year":"2022","journal-title":"Retina"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1016\/j.ophtha.2017.04.008","article-title":"Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease","volume":"124","author":"Stone","year":"2017","journal-title":"Ophthalmology"},{"key":"ref_3","unstructured":"(2022, September 21). 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