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13-11-2021 | Original Paper Open Access

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center

Tijdschrift:
Journal of Autism and Developmental Disorders
Auteurs:
Xiaoli Du, Jennifer Elaine Glass, Stephanie Balow, Lisa M. Dyer, Pamela A. Rathbun, Qiaoning Guan, Jie Liu, Yaning Wu, D. Brian Dawson, Lauren Walters-Sen, Teresa A. Smolarek, Wenying Zhang
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Supplementary Information

The online version contains supplementary material available at https://​doi.​org/​10.​1007/​s10803-021-05337-6.

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Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Abstract

Our 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%.

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