Requesting Diagnostic Genetic and Genomic Testing

Requesting a diagnostic genomic test involves more moving parts than a routine pathology order — phenotyping, funding, panel choice, consent, and a results plan all have to line up before the sample is collected. This checklist covers that sequence in four phases: Pre-Test, Test Selection, Consent and Ordering, and Follow-up.

It is built for kidney disease, with Medicare eligibility mapped to MBS items 73298 for Alport syndrome, 73401 for cystic kidney diseases, and 73402 for genetic kidney diseases, alongside the public and self-funded alternatives. Critical steps are flagged, and each item links to the consent forms, panel tools and laboratory directories you need at that point.

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

Typically used by:

• Nephrologists and renal trainees requesting diagnostic genomic testing
• Clinicians ordering across state lines who need the right consent form and laboratory
• Teams standardising how genomic test requests are prepared and documented
• Genetic counsellors and kidney genetics MDT members supporting a request

Most of this is gathered during the Pre-Test phase, but having it ready first makes the request faster.

• Detailed phenotype: history, examination, and relevant family history
• Non-genetic investigations, including blood biochemistry, urinalysis and imaging
• Records of any previous genetic testing, for the patient and for similarly affected relatives
• The clinical indication for testing, and how urgently the result is needed
• The funding route: public, Medicare, or patient self-funded
• The consent form and pathology request form for your state and laboratory