Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
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Published:2021-11-13
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Volume:
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ISSN:0162-3257
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Container-title:Journal of Autism and Developmental Disorders
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language:en
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Short-container-title:J Autism Dev Disord
Author:
Du Xiaoli,Glass Jennifer Elaine,Balow Stephanie,Dyer Lisa M.,Rathbun Pamela A.,Guan Qiaoning,Liu Jie,Wu Yaning,Dawson D. Brian,Walters-Sen Lauren,Smolarek Teresa A.,Zhang Wenying
Abstract
AbstractOur institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely pathogenic copy number variations in 27/511 cases (5.28%). Among the 484 patients tested for Fragile X FMR1 CGG repeats, a diagnosis (0.20%) was established for one male mosaic for a full mutation, a premutation, and a one-CGG allele. Within the 101 normocephalic female patients tested for MECP2, two patients were found to carry pathogenic variants (1.98%). This retrospective study suggested the NDR algorithm effectively established diagnoses for patients with NDDs with a yield of 5.87%.
Publisher
Springer Science and Business Media LLC
Subject
Developmental and Educational Psychology
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