Overview

Alport Syndrome is a genetic disorder which involves progressive loss of kidney function and may lead to severe hearing damage and eye abnormalities. This kidney related condition is caused by gene changes that significantly affect collagen in renal structures that play a vital role in filtering waste products from blood to create urine.

VCGS now offers Medicare funded Whole Exome Sequencing for the diagnosis of Alport Syndrome. To qualify for the Medicare rebate, testing must be requested by a clinical geneticist or specialist nephrologist and meet the Medicare Benefits Schedule (MBS) inclusion criteria (see inclusion criteria below).

Test Options

Diagnostic Testing: Medicare item number 73298

Whilst the Medicare item number specifically mentions testing for 3 genes, COL4A3, COL4A4, COL4A5, VCGS offers the option to test for a broader range of genes where suitable.

VCGS offers characterisation of germline gene variants for Alport syndrome in one of the following pre-curated and evidence-based panels (all with no out-of-pocket cost to the patient where *Medicare inclusion criteria are met):

  1. Alport syndrome (3 genes): COL4A3, COL4A4, COL4A5; or
  2. Alport syndrome (5 genes): CD151, COL4A3, COL4A4, COL4A5, MYH9; or
  3. Alport syndrome- extended (15 genes): CD151, CFH, CFHR5, CLCN5, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, CUBN, FN1, LMX1B, MYH9, NPHS2, OCRL

* Medicare inclusion criteria (diagnostic):

To access Medicare bulk billing, requests must be made by a clinical geneticist or specialist nephrologist and the patient must have been assessed as having relevant clinical and family history strongly suggestive of Alport syndrome.

Cascade (Family) Testing: Medicare item number 73299

VCGS offers Medicare bulk billing for the characterisation of previously identified Class 4 (likely pathogenic) or Class 5 (pathogenic) family germline gene variants in the following genes for patients who meet the #Medicare inclusion criteria:

COL4A3, COL4A4, COL4A5

# Medicare inclusion criteria (cascade):

Patient is a first degree biological relative of a patient who has had a pathogenic mutation identified in one or more of the COL4A3, COL4A4, COL4A5 genes only. The test must be requested by a specialist or consultant physician and the patient must not have previously received a service for which item 73298 applies.

Important note:

Cascade testing for a variant of uncertain significance (Class 3 variant) in COL4A3, COL4A4, or COL4A5, or testing of relatives for variants in genes other than COL4A3, COL4A4, COL4A5 will NOT be covered by Medicare. In these cases a fee of $250-$350 per variant per patient will apply. Please contact VCGS for further details.

Variants in the following genes are not covered by Medicare:

CD151, CFH, CFHR5, CLCN5, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, CUBN, FN1, LMX1B, MYH9, NPHS2, OCRL

Category

Cost

  • Diagnostic testing: Bulk billed for patients who meet the Medicare inclusion criteria.
  • Cascade testing: Bulk billed for patients who meet the Medicare inclusion criteria for familial variants in the COL4A3, COL4A4, COL4A5 genes only.
  • Cascade testing for variants in genes other than COL4A3, COL4A4, COL4A5 is at $250-$350 per variant per patient.

Reporting time

  • Diagnostic testing: 12-16 weeks.
  • Cascade testing: 8-10 weeks.

Contacts

For further information about Alport Syndrome testing, please contact:
Phone: 1300 11 8247
Email: [email protected]

Specimen Requirements

Specimen Type

  • EDTA blood: 1-2 ml (children); 4-5ml (adults).
  • Saliva: for patients where blood collection is unsuitable, ORAcollect saliva kits may be used. Please note saliva collection should be performed by, or in the presence of, a health professional. Please contact VCGS for access to saliva kits.

  • DNA extracted from EDTA blood, saliva, other tissues: please contact VCGS to confirm suitability.