Services

Solid Tumour Assays

15 gene DNA hotspot cancer panel:

Focused next generation sequencing assay to study relevant solid tumour somatic variants including mutations, deletions and insertions. Hotspots: AKT1, BRAF, EGFR, ERBB2, FOXL2, GNA11, GNAQ, KIT, KRAS, MET, NRAS, PDGFRA, PIK3CA, RET and TP53.

70 gene DNA pan-cancer panel:

A next generation sequencing assay which 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)

507 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.

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 transcipts in CML to the International Standard.

Single gene testing:

JAK2 V617F; CALR exon 9, MPL codon 515

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.