There is unprecedented, increasing demand for genomic testing in Australia.1,2 Recent developments in paediatric neurology alone include Medical Benefits Schedule, industry and research sponsored testing for monogenic causes of epilepsy, neuromuscular disorders, and syndromic intellectual disability, among others. To be ethically and legally valid, patients must undergo pre‐test counselling before they consent to genomic testing.
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Consent for publication of the case study described and discussed in this article was obtained from both parents on behalf of the child.
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Open access publishing facilitated by Monash University, as part of the Wiley ‐ Monash University agreement via the Council of Australian University Librarians.
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