Massively Parallel Sequencing for renal disorders 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 extensive 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. The specific AUSCAM lists have been developed over the last 2 years by Nephrologists and Molecular Geneticists.  

For further details see:  www.kidney-research.org/ARGP.html

The Victorian Clinical Genetics Services (VCGS) is one of Australia's biggest and most established genetic diagnostic laboratories and a not-for profit subsidiary of the Murdoch Childrens Research Institute, VCGS delivers expert genetic testing, diagnosis and counselling services to thousands of families throughout Australia and around the world and contributes to the efforts of Kidgen in helping to identify genes causing kidney disease. VCGS is one of the first laboratories to receive NATA accreditation for clinical exome sequencing and has developed core strengths in using detailed clinical information as a tool to drive our analysis. Depending on clinical context, our approach is able to identify genetic causes for disease in over 50% of patients. Whole exome sequencing not only allows us to fully benefit from our ever increasing level of clinical expertise at the time of reporting, but also enables re-analysis of the data without the need for additional sequencing should new evidence become available.

For further details see http://www.vcgs.org.au

Genome.One is a wholly owned subsidiary of the Garvan Institute of Medical Research and is the first diagnostic service to bring NATA accredited (ISO15189)  whole genome sequencing (WGS) to Australia. WGS is a comprehensive, single test that provides high sequencing quality and variant detection rates, better discrimination of pseudogenes (eg PKD1) and through re-analysis, is a resource you and your patient can use if future need arises. Our diagnostic tests can offer interpretation targeted to a panel of disease-specific genes, reducing cost, turnaround time and the potential for incidental findings. Renal genetic experts are integrated into our clinical pipeline to match clinical phenotypes with genetic data, extra analyses such as pharmacogenomics are avaliable and a complimentary genetic counseling service is provided if required. With patient consent, genomic raw data from our tests can be securely released for research purposes to enhance new discoveries and Genome.One is a contributor of variant information to database projects, including the ADPKD mutation database and ClinVar. As a diagnostic partner of KidGen, we aim to work closely with other providers, nephrologists, genetics experts and researchers to build a multidisciplinary team that is key for success in bringing effective genetic testing to the renal community.

 
For further details see https://www.genome.one