Pitfalls in genetic testing

Rapidly improving technology has allowed better, quicker, and cheaper evaluation of genetic abnormalities, including genetic analysis, which can be utilized in diagnosis and treatment decisions. However, despite the great promise of genetic testing, there remain limitations that are important for clinicians to understand. In this volume of The Journal, Wojcik et al describe a case where initial genetic testing for a child with phenotypic early onset Marfan Syndrome was negative. Ultimately, genome sequencing revealed a deletion that had been previously missed.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: The Editors' Perspectives Source Type: research