Paediatric Testing Checklist

Ordering a genomic test for a child with suspected intellectual disability or a childhood syndrome involves several requirements that have to be met before the request is submitted — Medicare eligibility, a non-informative microarray, a geneticist consult, and consent that covers more ground than routine pathology.

This checklist works through that sequence in four phases: Pre-test, Consent and Confirmatory Consult, Ordering Test, and Post Test Results. It is built around MBS items 73358 and 73359 for children aged 10 years and 364 days or younger, and links directly to the state consent forms, pathology request forms and laboratory directories you need at each point.

Use this when you already understand the testing pathway and want a reliable checklist to work through, rather than a guided explanation of each decision.

Typically used by:

• Paediatricians ordering genomic testing for childhood syndromes
• Paediatric registrars and advanced trainees preparing a request
• Clinicians confirming nothing has been missed before submitting
• Genetic counsellors and genetics services supporting a paediatric request

Have this together before you start — some laboratory portals cannot save a part-completed request.

• Practitioner and clinic details, including the email address for reports
• Patient details, including date of birth and Medicare number
• Parent details if ordering a trio, including their clinical information
• Clinical details: dysmorphic features, congenital abnormalities, growth measurements, and severity of developmental delay
• Chromosomal microarray results, plus any Fragile X or urine metabolic screening
• A three-generation pedigree, and signed consent forms — three for a trio