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

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. S...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556427/
https://www.ncbi.nlm.nih.gov/pubmed/34773222
http://dx.doi.org/10.1007/s10803-021-05337-6
Descripción
Sumario: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%. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10803-021-05337-6.

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