Summary

Genomic testing is becoming standard of care for children with suspected intellectual disability, developmental delay, or congenital anomalies — yet the ordering process can feel unfamiliar for many paediatricians. This guided pathway walks you through every stage, from confirming Medicare eligibility under MBS items 73358 and 73359, obtaining clinical geneticist approval, and preparing consent, through to selecting a NATA accredited laboratory, submitting samples, and disclosing results. The pathway branches based on your patient's circumstances, so the guidance you receive is always relevant to your specific case. Paediatricians who already have a good understanding of the testing process and are ready to order can use the Checklist pathway instead for a quicker reference.