Services

Solid Tumour Assays

Fundamental DNA Panel:

A next-generation sequencing assay that screens for mutations (SNVs, indels, complex variants) as well as copy number variations (CNV) in 65 genes (all coding regions of these 65 genes are covered) and hotspot mutations in the remaining five genes. Full coding regions: AKT1, ALK, APC, AR, ARID1A, ATM, BAP1, BRAF, BRCA1, BRCA2, CD274, CDHY1, CDK4. CDK6, CDKN2A, CDJKN2B, CTNNB1, CYSLTR2, EGFR, EPCAM, ERBB2, ERBB3, ESR1, FBXW7, FGFR1, FGFR2, FGFR3, FOXL2, GNA11, GNAQ, GNAS, HRAS, IDH1, IDH2, KEAP1, KIT, KRAS, MAP2K1, MET, MLH1, MSH2, MSH6, MYC, MYCN, NF1, NF2, NRAS, PALB2, PDGFRA, PDGFRB, PIK3CA, PMS2, POLE, POLD1, PP2R1A, PTEN, RB1, RET, ROS1, SF3B1, SMAD4, STK11, TP53, TSC1 and VHL. Hotspots: H3F3A, H3F3B, HIST1H3B, HIST1H3C and TERT (promoter only)

1375 Gene RNA Fusion Pan-Cancer panel:

Targeted RNA next-generation sequencing assay to detect gene fusions in multiple cancer types, including novel fusion gene partners. List of genes available on request.

AVENIO Tumour Pan-Cancer panel 

This panel uses the Roche AVENIO Tumor Tissue CGP Kit, which leverages, the FoundationOne® Analysis Platform, to provide comprehensive genomic profiling (CGP). Substitutions, Indels, copy number alterations and fusions in 335 genes and genomic signatures (HRD, TMB, MSI and LOH) are reported. List of genes available upon request.

Molecular Haematology Assays

Myeloid malignancy gene panel:

Focused next-generation sequencing assay to study relevant myeloid malignancy variants, including mutations, deletions and insertions. Genes (39): ABL, BRAF, CBL, CSF3R, DNMT3A, FLT3, GATA2, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, MYD88, NPM1, NRAS, PTPN11, SETBP1, SF3B1, SRSF2, U2AF1, WT1, ASXL1, BCOR, CALR, CEBPA, ETV6, EZH2, IKZF1, NF1, PHF6, PRPF8, RUNX1, SH2B3, STAG2, TET2, TP53, ZRSR2.

Myeloproliferative neoplasm (MPN) panel:

Focused next-generation sequencing assay to study relevant myeloproliferative neoplasm variants, including mutations, deletions and insertions. Genes (9): CSF3R, JAK2, KIT, MPL, SETBP1, SF3B1, ASXL1, CALR, SH2B3.

t(9;22) BCRABL1 testing:

For the molecular diagnosis of BCR-ABL1 positive CML and ALL (p210 and p190). Molecular monitoring of BCR-ABL1 transcripts in CML to the International Standard.

78 Gene RNA Fusion panel:

Targeted RNA sequencing (78 genes) assay to detect gene fusions in Haematology patients, including myeloid or lymphoid neoplasms. List of genes available upon request.

Germline Assays

  • MS-MLPA testing for 11p15 chromosome analysis for Beckwith Wiedemann syndrome and Wilms tumour.
  • MS-MLPA testing for 11p15 chromosome analysis for Russell Silver syndrome and associated disorders.
  • Detection of mutations in the Cyclin-Dependent Kinase Inhibitor 1C (CDKN1C) by Sanger sequencing
  • MLPA testing for 15q11 chromosome analysis for Prader Willi (PWS) and Angelman syndrome (AS)

Specimen requirements may be found in the online specimen collection manual.

The laboratory is presently developing and testing gene panels for malignant conditions.