This checklist is for nephrologists in Victoria who need to request a Medicare-funded genetic test.
Step 1: Check eligibility
- Check for previous genetic testing. If previous testing in patient or family, DO NOT PROCEED.
- Call the Genetic Counsellor Support Line on 0417 115 780 or email firstname.lastname@example.org.
- Use the decision aid and traffic light tool to confirm eligibility and required turnaround time.1
- Check that the test is MBS rebatable.2
1 Standard turnaround time for genomic testing is 3 months. Testing may be able to be expedited by (TAT around 1 week if required) please contact your local genetic counsellor hotline for advice. Indications for urgency include high-cost drug, invasive investigation (or biopsy) that may be avoided with a timely result, imminent reproductive decision-making implications.
2 There are two criteria for making pathology testing Medicare billable:
a. The test being ordered is considered eligible for Medicare (as determined by the clinician): and
b. The patient is Medicare eligible and episode of care is considered private.
MBS funding for Renal Diagnostic Genetic Testing
Note that funding is such that laboratories can currently only provide testing on a WES backbone. This means that this testing will not identify genetic changes due to copy number variants (i.e. exon or gene deletions). If there is a strong clinical suspicion of the condition but the test does not identify a genetic cause, then further testing to look for CNVs may be warranted.
Step 2: Obtain informed consent
- Discuss all aspects of consent with the patient. Provide the patient with a fact sheet and refer to the health professionals’ guide to obtaining consent for testing.
- Complete clinical consent form (adult or child) for genomic testing.
- Scan or file the signed consent form in the patient's medical records.
Step 3: Order the test
- Identify an accredited laboratory and clarify specimen requirements.3 Here are order forms for recommended laboratories: The Royal Melbourne Hospital (PDF) and VCGS (online form). Note blood collection can be performed at any laboratory.4
- Complete clinical details4, referrer details5 and test request6.
- Attach completed consent form to the request.7
3 Specimen requirements:
- Blood is preferable in adults.
- EDTA blood sample, Adult: 5mL, Child: 1-3mL
- Saliva kits are available through VCGS online request system
4 If using alternative laboratory, clarify any mandatory requirements with relevant laboratory. This may include a consent form, test, specific laboratory pathology form and specimen type (for RMH and VCGS, this is specified on the order form).
5 Give as much clinical info as possible. If suspicious of specific dx, include this here. If suspecting a specific gene, or gene list, document request here. Gene lists can be reviewed at PanelApp.
6 For nephrologists at Royal Melbourne Hospital, Royal Children's Hospital, Austin Health and Monash Health, please copy in your local genetic counsellor.
7 Choose between three test requests:
- Alport panel (item number 73298)
- Cystic kidney disease super panel (item number 73401)
- Kidneyome super panel (item number 73402)
Specific features of Alport syndrome include one of the following: high-tone sensorineural hearing loss, eye signs such as perimacular flecks or anterior lenticonus.
Here are examples of completed order forms for heritable kidney disease, heritable cystic kidney disease, and Alport syndrome.
ONLY request Alport syndrome panel if patient has haematuria AND specific features for Alport syndrome. All other patients for Alport testing should have Kidneyome superpanel (item 73402) requested. Not sure which one to pick? This decision aid can help.
Download a printable version of this checklist.
Relevant forms and fact sheets
- Consent form (adult)
- Consent form (parent/guardian)
- For patients: Fact sheet on informed consent
- For health professionals: Guide to consent
- Fact sheet: Insurance and genetic testing
- Fact sheet: Moratorium on the use of genetic testing results