Tumour Molecular Profiling by Massively Parallel Sequencing

Single nucleotide changes and small deletions and insertions in a DNA coding sequence (typically referred to as mutations) can impact the function of the associated protein, causing it to contribute to cancer progression or altering the sensitivity to certain anti-cancer chemotherapy agents. DNA sequencing is a method that can be employed to detect these mutations within a sample. PCR is used as an initial step to isolate and amplify specific regions of the genome typically referred to as amplicons. DNA sequencing is then performed to determine the nucleic acid sequence that is then compared to a reference sequence to identify mutations.

Massively parallel sequencing allows for multiple amplicons to be analysed hundreds or thousands of times in a parallel fashion to detect the presence of mutations in a sample. Our standalone tumour molecular profiling service can detect hundreds of variants (hot spot mutations) in 26 tumour associated genes. The test can be performed on small specimens (typically 8-10 slides), with the concurrent sequencing of all genes allowing faster identification of correct treatment pathways.

Our targeted tumour molecular profile enables massively parallel sequencing identification of somatic variation within a tumour sample. It provides exonic coverage of regions of 26 genes selected from CAP (College of American Pathologists) and NCCN (national comprehensive cancer network) guidelines, as well as late stage clinical trials. The genomic regions included are designed to be ideally applied to melanoma, lung, colon, gastric, and ovarian malignancies and allows depth of coverage which can detect variants confidently below a 5% allelic frequency.

 

Test Tumour Molecular Profiling by Massively Parallel Sequencing Test 
Genes AKT1, ALK, APC, BRAF, CDH1, CTNNB1, EGFR, ERBB2, FBXW7, FGFR2, FOXL2, GNAQ, GNAS, KIT, KRAS, MAP2K1, MSH6, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SRC, STK11, TP53, selected exons.
Disease Ideally suited for molecular profiling of lung, melanoma, colon, gastric, and ovarian malignancies
Method Massively parallel sequencing
Notes Samples which do not meet quality control criteria for massively parallel sequencing will undergo limited testing by PCR for those regions of EGFRKRAS, BRAF and NRAS as considered most clinically appropriate.
Specimen 8-12 FFPE slides
Turn Around Time Standard Service:   7 working days
Express Service:     TBA
Shipping TBA
Required Documents
(Downloadable documents are supplied within each kit dispatched)
  1. Physician Test Request Form
  2. Payment Form (private non MBS eligible patients only)
Price Please contact us here about private, public and contractual pricing arrangements