Australian Renal Gene Panels (Massively Parallel Sequencing)
This is a temporary site for clinicians requesting Massively Parallel Sequencing for renal disorders. This testing is run by the diagnostic molecular genetic laboratory at Children’s Hospital at Westmead (Sydney Children’s Hospital Network). This is a NATA accredited facility that has a long experience in renal genetics including national testing for podocin and nephrin since 2009. The clinical testing builds on the last 2 years of work to establish gene panels and assess different platforms. This laboratory also provides similar panels for clinical testing for a range of other diseases including aortopathies, epilepsies, and bone disorders.
The testing utilises the robust Illumina Trusight platform covering clinical disease genes (see information sheet). The specific AUSCAM lists have been developed over the last 2 years by Nephrologists and Molecular Geneticists.
This site provides links for information sheet, request forms and consent forms for the initial four panels, aHUS (7 genes), Alports (3 genes), Nephrotic syndrome (29 genes), Hyperoxaluria (3 genes) and for Cystinosis testing. Costs are listed on the request form and turn around is 16 weeks.
Future panels will include CAKUT, Cystic Disease and Ciliopathies including nephronophthisis and tubular disorders and eponymous syndromes.
For laboratory enquiries
For clinical support and enquiries
Dr Andrew John Mallett
Co-Lead, RBWH Renal Genetics Program
Genetics of Paediatric Nephrology Clinical Advice
Dr Hugh McCarthy and Prof Stephen Alexander Departments of Clinical Genetics/Nephrology The Children's Hospital at WestmeadE:: email@example.com
With thanks for support
- Magdalene Foundation
- Manildra Foundation
- Tim Courtney