Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)

Neurodevelopmental disorders (NDDs) such as global developmental delay, intellectual disability and autism spectrum disorder are collectively the most common chronic medical conditions encountered in pediatric primary care. Given their clinical and etiological heterogeneity, the cause of NDDs can be challenging to diagnose. Guideline recommendations for appropriate metabolic and genomic investigations are inconsistent and has resulted in variability in clinical practice.  This position statement provides up to date evidence-based recommendations for primary care and subspecialty clinicians on the use of genetic and metabolic investigations for patients with NDDs including indications for whole exome sequencing and gene panels. (By Drs. Hilary Vallance and Melissa Carter, https://jmg.bmj.com/content/early/2023/02/22/jmg-2022-108962 )

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