Introduction of Next-Generation Sequencing
In coordination with the move of Prof Lyn Griffiths, the GRC laboratory has moved to new facilities at the Queensland University of Technology, Brisbane and with this move, we would like to introduce an exciting new development in our genetic testing: Next Generation Sequencing.
Our Next Generation Sequencing method utilises the Ion Suite of instruments (PGM, Proton, Chef) from Life Technologies, which allows for the massively parallel sequencing of multiple regions of DNA simultaneously.
We are also a recognised service provider of Thermo Fishher Scientific, Life Technologies division for our NGS services.
As a result, we can now offer almost complete coverage of five genes in a single test, at a cost similar to our previous tests that covered only five exons.
This offers a massive increase in coverage for mutation detection, as all exons for ATP1A2, NOTCH3, CACNA1A,TRESK, and SCN1A are covered in our new test, along with intronic boundaries and 5’ and 3’ UTRs (with some areas of limited coverage).
This means that where clinical signs are uncertain, not only can the primary gene of interest be completely sequenced for a similar price as our FHM1 or CADASIL Extended tests, but other genes that may contribute to patient outcomes can be interrogated as well.
Our new Next Generation Sequencing method is fully NATA accredited (ISO: 15189; accreditation number: 14979) and is backed with traditional Sanger sequencing of any detected mutations to confirm their presence. We hope you will find that this new method will provide superior information and cost effectiveness than our previous sequencing practices.
We also offer targeted mutation testing using our NATA accredited Sanger sequencing for patients who have a known mutation site based in data from a family member from our own sequencing or from another laboratory. We continue to offer our MTHFR testing as in the past.
Researchers at the GRC participate in international collaborations with a large number of eminent research institutes including the National Institutes of Health, Bethesda (US), Southwest Foundation for Biomedical Research, San Antonio (US), Italian National Research Council, Migraine Trust (UK), University of Vienna (Vienna), Penn State University (US), Mayo Clinic (US) and the Institute of Medical Biology (Singapore).
The Genomics Research Centre Molecular Diagnostics Facility is supported by funding from Therapeutic Innovation Australia and NCRIS