Overview

Genetic testing for heritable kidney diseases can provide an early and accurate diagnosis, enabling preventative treatment and screening for family members and reproductive partners.
VCGS offers Medicare-funded Exome Sequencing for the diagnosis of heritable cystic kidney disease and heritable kidney disease.

Test Options (from 1st July 2022)

Cystic kidney disease - diagnostic exome
Medicare item number: 73401

This Medicare-funded Exome^ test analyses genes associated with macrocystic and microcystic renal disease (nephronophthisis) via the PanelApp Australia Renal Cystic Disease Super Panel.

(^In our experience the diagnostic yield for cystic kidney diseases is comparable between Exome sequencing and Whole Genome Sequencing (WGS)).

* Medicare eligibility criteria

Requests must be made by a consultant clinical geneticist or specialist nephrologist for a patient with a renal abnormality specifically associated with cystic kidney disease, and who is strongly suspected of having a monogenic condition.

This Medicare item number is applicable only once per lifetime.

Please order this test for eligible patients via our online test request system.

  • ORACollect saliva kits can be posted directly to your patients through this portal.
  • Alternatively, blood collection can be arranged

Kidney disease (non-cystic, non-Alport) - diagnostic exome
Medicare item number: 73402

This Medicare-funded Exome test analyses genes associated with heritable kidney disease via the PanelApp Australia Kidneyome Super Panel.

* Medicare eligibility criteria

Requests must be made by a consultant clinical geneticist or specialist nephrologist for a patient with chronic kidney disease (other than cystic disease or Alport syndrome), and who is strongly suspected of having a monogenic condition.

This Medicare item number is applicable only once per lifetime.

Please order this test for eligible patients via our online test request system.

  • ORACollect saliva kits can be posted directly to your patients through this portal.
  • Alternatively, blood collection can be arranged

Cost

Bulk billed for those meeting Medicare eligibility criteria.

For non Medicare eligible patients:

  • Cystic kidney disease: Exome_small singleton (Renal cystic disease_superpanel) - $1400
  • Kidney disease (non-cystic, non-Alport): Exome_medium singleton (Kidneyome) - $2000

Contact VCGS for prenatal, carrier, or reanalysis test pricing.

Reporting time

3-4 months

Contacts

Genomics Clinical Liaison team
P 1300 118 247
E [email protected]

Specimen Requirements

Notes

Other test options

Reanalysis of exome data- Medicare item number: 73403

VCGS offers reanalysis of genomic data from previous Exome testing for cystic kidney disease or kidney disease (non-cystic, non-Alport) to detect previously unreported variants related to the original clinical indication. To claim Medicare funding for this test please clearly indicate the applicable Medicare item number on the test request.

* Medicare eligibility criteria

Requests for reanalysis must be made by a consultant clinical geneticist or a specialist paediatrician for a patient with a strong clinical suspicion of a monogenic condition. The original genomic analysis must have been completed under MBS item numbers 73401 or 73402. This item is to be applied:

  • after 18 months has elapsed following a service under item 73401 or 73402;

  • after 18 months has elapsed following a service where this item number (73403) was first applied

This Medicare item number is applicable only twice per lifetime.

Cascade testing - Medicare item number: 73404

VCGS offers testing of family members for a single gene variant previously identified in a relative. To claim Medicare funding for this test please clearly indicate the applicable Medicare item number on the test request.

* Medicare eligibility criteria

Requests must be made by a clinical geneticist or specialist/consulting physician providing professional genetic counselling services. This request must be for a first degree relative of a patient who has found a causative germline variant under the MBS item numbers 73401, 73402, or 73403.

This Medicare item number is applicable only once per variant per lifetime.

Carrier testing - Medicare item number: 73405

VCGS offers testing for the reproductive partner of an individual who is a known carrier of a pathogenic variant for reproductive decision making.To claim Medicare funding for this test please clearly indicate the applicable Medicare item number on the test request.

* Medicare eligibility criteria

Requests must be made by a consultant clinical geneticist or specialist nephrologist. This request must be for a reproductive partner of a patient who is a known carrier of a pathogenic variant that causes kidney disease and has a recessive mode of inheritance. The variant must have been detected under the MBS item numbers 73401, 73402, or 73403.

Prenatal - Medicare item number: 73406 (Note: out of pocket cost applies, bulk billing not available)

VCGS offers testing of a pregnant patient’s fetus, where that patient and/or the patient’s reproductive partner are known to be affected by or carriers of known pathogenic variants. Please contact VCGS to discuss testing and associated out of pocket cost.

* Medicare eligibility criteria

Requests must be made by a consultant clinical geneticist or specialist nephrologist for a fetus which must be considered to have at least 25% risk of inheriting a monogenic variant known to cause kidney disease.