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Use of ultra‐rapid whole‐exome sequencing to diagnose congenital central hypoventilation syndrome

genetic mutation in the PHOX2B gene, is important due to the genotype phenotype correlation. Knowledge of a patient’s exact mutation allows accurate prognostication and targeted screening for complications of CCHS 1 . Current guidelines 1 recommend genetic testing for CCHS consisting of PHOX2B screening with sequencing of the PHOX2B gene if the initial screen is negative and there is a high clinical suspicion. This process of testing is not readily available at all centres meaning that often samples will have to be sent internationally for testing, with associated cost and delay.