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Comparing Gene Panels for Non-Retinal Indications: A Systematic Review
Rebecca Procopio1, Jose S Pulido1, Kammi B Gunton1
1Wills Eye Hospital, Philadelphia, PA 19107, USA.
Genes
|March 29, 2023
Summary
Genetic testing panels for inherited eye diseases vary significantly. Careful phenotyping and pre-test genetic hypotheses are crucial for selecting the most effective diagnostic panel.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Genetic testing options for inherited eye diseases are expanding.
- Gene panels for conditions like optic atrophy, cataracts, and glaucoma differ in content and coverage.
Approach:
- A systematic review identified genetic testing panels for various ocular phenotypes using Concert Genetics and laboratory websites.
- Ophthalmic panels were compared to highlight differences and similarities for clinical decision-making.
Key Points:
- Genetic testing panels for inherited eye diseases are not standardized.
- Understanding the specific genetic basis of an eye condition is vital for choosing the right panel.
- Phenotypic characterization aids in predicting genotypes and guiding panel selection.
Conclusions:
- The increasing availability and diagnostic yield of genetic testing necessitate informed panel selection.
- Clinicians should consider patient phenotyping and pre-test genetic hypotheses when choosing a genetic testing panel for ocular conditions.
