1. Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
- Author
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Du X, Glass JE, Balow S, Dyer LM, Rathbun PA, Guan Q, Liu J, Wu Y, Dawson DB, Walters-Sen L, Smolarek TA, and Zhang W
- Subjects
- Child, DNA Copy Number Variations, Female, Fragile X Mental Retardation Protein genetics, Genetic Testing, Hospitals, Humans, Male, Mutation, Retrospective Studies, Trinucleotide Repeat Expansion, Autism Spectrum Disorder diagnosis, Fragile X Syndrome diagnosis, Fragile X Syndrome genetics, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders genetics
- 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%., (© 2021. The Author(s).)
- Published
- 2022
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