1.1Clarify Phenotype

Obtain detailed phenotype information from: - History, examination and relevant family history - Non-genetic investigations (e.g. Blood biochemistry, Urinalysis, Imaging)

1.2Check for Previous Genetic Testing For the Patient

Review patient records and clarify whether the patient has had testing for the same presentation: 1. Clarify whether testing is currently underway- do not proceed with testing, exit out of this pathway. 2. Testing completed within 3-5 years with no diagnosis- contact genetics service or kidney genetic MDT for support 3. Testing completed over 3-5 years with no diagnosis - proceed with this pathway

1.3Check for Previous Genetic testing : Similarly affected Family member

Clarify if testing has been completed: 1. Pathogeneic or likely pathogenic variant identified 2. Testing completed within 3-5 years with no diagnosis- contact genetics service or kidney genetic MDT for support 3. Testing completed over 3-5 years with no diagnosis - proceed with this pathway

1.4Determine Clinical indication

Clarify the indication for diagnostic testing. Identify clinical features that suggest a high probability of genetic aetiology: • Family history of kidney disease • Young age of presentation • Syndromic features • Diagnostic features of specific diseases identified on investigations • Multiple bilateral kidney cysts • Unexplained chronic kidney disease (onset <50 years) Consider genetic or genomic testing for any the following indications: • Diagnostic clarification or uncertainty • Genotype-specific management • Transplant planning (particularly if donor is a blood relative) • Risk clarification for family members • Family planning

1.5Determine Test Urgency

Clarify the desired turn around based on clinical urgency (this will have an impact on test cost)

2.1Select the Appropriate Genomic Test and Gene Panel

Select the genetic or genomic test to target the suspected disease aetiology and variant types (there may be multiple possibilities).

2.2Identify test funding source

Clarify how the test will be funded: 1. Public (speciality service)- Obtain approval from consultant or director (if indicated) 2. Medicare funded: Ensure consultation is eligible for Medicare billing AND review eligibility criteria for testing using items: – #73298: Alport syndrome – #73401: Cystic kidney diseases – #73402: Genetic kidney diseases 3. Private (patient self-funded)- Ensure patient is aware of costs (and alternate access to testing through a public service)

2.3Select 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.

3.1Obtain Patient Consent

Obtain the appropriate consent form for your state or laboratory. Complete the clinical consent form for genetic and genomic testing with the patient. Scan or file the signed consent form in the patients medical record. Give the patient the genetic and genomic testing fact sheet.

3.2Completed Patient pathology request form

Complete a patient pathology request form relevant to the pathology provider. This will be based on the test funding source: • Public or Medicare funded- public pathology provider form • Patient or Medicare funded- private pathology provider form Provide the following information on the form (for accurate test processing): • Name of chosen testing laboratory • Type of genetic or genomic test • Gene panel(s) for analysis if genomic test • Clinical urgency • Patient's phenotype and relevant family history Give the patient the pathology form to take to the relevant collection centre

3.3Complete Laboratory request form

Complete a laboratory test request form relevant to the chosen testing laboratory. Provide the following information to the laboratory (for accurate test processing): • Type of genetic or genomic test • Gene panel(s) for analysis if genomic test • Clinical urgency • Patient's phenotype and relevant family history Note: For a non-Australian testing laboratory, ensure they test all the diagnostic-grade (Green) genes from the relevant disease gene panel on PanelApp Australia

4.1Plan for results disclosure

Ensure the patient is aware of the plan to disclose test results including: • Method of disclosure • Expected timeframe (based on turnaround time of chosen testing laboratory) Note: Disclosing the genetic or genomic test result is the responsibility of the requesting clinician or consultant

4.2Interpret test Result

Ensure you can interpret the outcomes of testing and their clinical implications. Note: see references for a guide

4.3Request Specialist Referrals

Request a referral to your regional genetics service or kidney genetics MDT clinic to: • Interpret results • Discuss results with the patient • Provide post-test genetic counselling for the patient