Summary

Intellectual disability and childhood syndromes encompass a broad group of conditions in which a genetic cause is suspected but has not been identified through conventional investigations such as chromosomal microarray, Fragile X testing, or metabolic screening. Genomic testing under MBS items 73358 and 73359 covers whole exome or genome sequencing for children aged 10 years or younger, with trio testing strongly recommended to improve diagnostic yield. This checklist provides a concise phase-by-phase reference covering eligibility confirmation, routine investigations, clinical geneticist consultation, informed consent, sample submission, and result disclosure. Paediatricians who are new to the process are encouraged to use the Guided pathway instead.