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Jonathan B. Trapani

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Review Open access Oct 2026

Genetic Testing: Basic Principles for the Pediatrician

In this review, we describe current genetic testing modalities available for pediatricians, provide guidance on test selection and result interpretation, and inform providers on proper genetic testing consent practices. For each type of genetic test, details regarding types of mutations detected, limitations, and commo...

Jonathan B. Trapani, John A. Phillips, Scott K. Ward · 0 citations

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