Genetic counseling and testing

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Abstract

The understanding of the genetic basis of ophthalmic and systemic diseases has greatly improved over the last few decades. With the advent of new and effective genetic testing options and the increasing importance of these tests for appropriate diagnostic and therapeutic management of patients, the need for specialists in genetics has become more critical. The appropriateness of tests for individual patients needs to be understood, and the tests need to be judiciously selected. The incentives for obtaining genetic testing include confirmation of a clinical diagnosis, direct medical management, and the determination of recurrence risks.

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Marino, M. J., & Traboulsi, E. I. (2016). Genetic counseling and testing. In Practical Management of Pediatric Ocular Disorders and Strabismus: A Case-based Approach (pp. 329–336). Springer New York. https://doi.org/10.1007/978-1-4939-2745-6_33

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