1.1Conduct a Standard Nephrology Workup

This includes renal imaging, urinalysis, and eGFR as per Kidney Health Australia guidelines. Characterise proteinuria, haematuria pattern, structural abnormalities, and extrarenal manifestations.

1.2Take a Three-Generation Family History

Construct a pedigree documenting kidney disease, syndromic traits or consanguinity while noting multigenerational patterns. This will be required on the test request form.

1.3Assess Risk Factors for Genetic Kidney Disease

Patient is suspected of genetic kidney disease and has one or more of the following: - Young age (<35 years old) - Family history of kidney disease - Parental consanguinity - Persistent haematuria > 6 months - CKD with bland urine (if other causes excluded like hypertension) - ESKD <50 with unclear aetiology

1.4Characterise the Clinical Phenotype

Document a detailed phenotype summary including history, examination findings, relevant investigations (haematology, biochemistry, urinalysis, histopathology, radiology), and any MDT input. Aim to classify the presentation into a working diagnosis to guide test selection.

1.5Patient has Suspected genetic kidney disease and Multiple renal cysts

In addition to the genetic kidney disease risk factors, patient has multiple renal cysts. Individuals with multiple kidney cysts (excluding those patients with suspected acquired cystic kidney disease) (Park et al., 2021); - Individuals who meet ultrasound criteria for ADPKD but have no family history of cystic kidney disease. - Individuals who have a clinical diagnosis of ADPKD where a genomic diagnosis will potentially benefit the individual being tested or their family member. If they don't have renal cysts, use the alternate checklist.

2.1Select the Appropriate Genomic Test from options below

1. Patient has multiple renal cysts and no other features test using MBS item number 73401 - Cystic kidney disease super panel. 2. Patient has multiple renal cysts and other features (glomerular haematuria/proteinuria etc) and doesn't have features of renal cysts and diabetes syndrome; test using MBS item number 73402 Kidneyome super panel. 3. Patient has multiple renal cysts and other features (glomerular haematuria/proteinuria etc) and has features of renal cysts and diabetes syndrome; test using a microarray first (MBS 73292) and if this is non-diagnostic test using MBS item number 73402 Kidneyome super panel.

2.2Select a NATA Accredited Laboratory

Identify a NATA accredited laboratory appropriate for your state and chosen test. Contact the laboratory ahead of time to confirm sample requirements, collection site requirements, and current turnaround times.

2.3Contact Renal Genetics MDT if Needed

If the clinical scenario is complex, the phenotype is unclear, or you have questions about test selection, contact your local Renal Genetics MDT or KidGen support line before proceeding. Have workup results, family history, and phenotype summary accessible for this conversation.

3.1Prepare Consent Forms

Obtain the appropriate consent form for your state or laboratory. Familiarise yourself with the content ahead of the consultation — genomic consent covers more ground than standard pathology consent and may require more than one conversation.

3.2Obtain Informed Consent

Obtain written informed consent from the patient. Use the consent form to guide the consultation making sure to cover: implications for insurance, impact on relatives, unexpected family relationships from trio testing, data storage, limitations of the test, right to withdraw consent, and optional sample sharing for research. Provide them with any fact sheet or additional information that you feel is needed. Ensure the consent form is fully signed. Scan and upload a copy to the patient's medical record before proceeding with the test order.

4.1Complete test request paperwork and submit

Complete the laboratory's test requisition form with clinical phenotype, relevant family history, type of genomic test, name of gene panel, Medicare item number, and your name, department, and contact details. Ensure that there are also completed consent forms with this request. If you have any issues contact the pathology lab for guidance.

4.2Set Expectations With the Patient

Advise the patient that results will take approximately 6–9 months to return and will be sent directly to you as the requesting clinician. Re-confirm how you will communicate the results with them.

5.1Review the Genomic Report

Read the report carefully before contacting the Patient. If uncertain about the result, variant classification, or next steps, contact the Renal MDT or clinical geneticist who was involved in the test selection process previously or the reporting laboratory for guidance.

5.2Disclose Results to the Patient/Family

Based on the previously agreed upon consultation format — communicate the findings of the genomic test. Allocate adequate time and have a printed copy of the report and any additional relevant resources ready. Communicate the result clearly and sensitively. Cover the clinical implications for the patient's kidney management, extrarenal features where applicable, family and cascade testing implications, and reproductive options where relevant.

5.3Provide Result-Specific Resources

Depending on the type of results - there are groups and resources in the links that may be helpful. Alternatively the Patient and Family may benefit from Genetic counselling at this point in time.

5.4Arrange Next Steps and Follow-Up

Refer to a Kidney Genetics Clinic for cascade testing, in-depth post-test counselling, or management of complex results. Consider re-analysis eligibility under MBS 73403 for uninformative results, and ensure family members are offered appropriate clinical screening regardless of result.