New to Genomic Testing in Paediatrics

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. Medicare funds whole exome or genome sequencing under MBS items 73358 and 73359 for children aged 10 years and 364 days or younger, where a monogenic condition is suspected and a chromosomal microarray has already returned a non-informative result.

This guided pathway walks you through every stage: confirming which eligibility criterion your patient meets, obtaining patient-specific approval from a clinical geneticist, preparing consent, selecting a NATA-accredited laboratory, arranging trio collection, and interpreting the report. It branches on your patient's circumstances, so the guidance stays relevant to your case.

This pathway assumes no prior genomics training. It is written for clinicians assessing children with unexplained developmental delay, intellectual disability, or complex congenital anomalies, and it sets out what has to be in place before testing can be ordered or a referral made.

Typically used by:

• General paediatricians ordering genomic testing for the first time
• Paediatric subspecialists confirming eligibility before ordering
• Clinical genetics registrars and trainees
• General practitioners who need to know when to refer for assessment

Most of this is assembled before the geneticist consultation, and having it ready avoids delays at the request stage.

• A chromosomal microarray result (MBS item 73292) that was non-informative — this is required
• Fragile X testing, which is recommended alongside the microarray
• A three-generation family pedigree with detailed clinical information
• A summary of the child's phenotype, including any dysmorphic or structural findings
• Patient-specific approval from a clinical geneticist
• Consent and samples from both biological parents if ordering trio testing