Molecular Haematology

The Molecular Haematology Laboratory at Peter MacCallum Cancer Centre provides the basis for genomically personalised care to patients with haematological malignancies.

The Molecular Haematology Laboratory at Peter MacCallum Cancer Centre utilises the latest advances in genomic technology to enhance accurate diagnosis, prognosis and treatment of patients with haematological malignancies. Our medically led and clinically focussed service provides a high level of scientific and clinical guidance and support around test choice and test result interpretation. The Molecular Haematology Laboratory offers:

  • A dedicated clinical and laboratory molecular haematologist, Dr Piers Blombery, and multiple expert senior post-doctoral molecular haematology scientific staff.
  • Molecular multidisciplinary team (MDT) meetings attended by clinical and laboratory haematologists, senior molecular haematology scientific staff and a medical geneticist in which NGS Gene Panel result interpretation and variant curation is discussed, including assessment of potential germline variants. Teleconference facilities are available for external referrers. 
  • A clinical molecular consultative service to help guide the most appropriate choice of testing, patient education & consent and post-test analysis.
  • A NATA-accredited NGS service.

AVAILABLE ASSAYS

Request Form (including Specimen Requirements) available in Resources section below

NGS Gene Panels

Myeloproliferative Neoplasm Diagnostic Gene Panel (8 genes) - 28 day turnaround time
JAK2, MPL, CALR, KIT, SF3B1, CSF3R, ETNK1, SH2B3

Haematological Malignancy Gene Panel (57 genes) - 28 day turnaround time
ABL1, ARAF, ASXL1, BCL2, BIRC3, BRAF, BTK, CALR, CARD11, CBL, CD274, CD79B, CEBPA, CSF3R, CXCR4, DDX41, DNMT3A, ETNK1, EZH2, FLT3, FYN, GATA1, GATA2, ID3, IDH1, IDH2, IRF8, JAK2, JAK3, KIT, KRAS, MAP2K1, MPL, MYD88, NOTCH1, NPM1, NRAS, PDCD1LG2, PIGA, PFH6, PLCG1, PLCG2, RHOA, RUNX1, SETBP1, SF3B1, SH2B3, SRSF2, STAT3, STAT5B, STAT6, TCF3, TET2, TP53, U2AF1, XPO1, ZRSR2

Single Gene TP53 - 28 day turnaround time
Please note, TP53 gene variant analysis is provided as a fully subsidised test for eligible CLL patients when requested alongside IGHV Somatic Hypermutation (SHM) Analysis. Please find inclusion criteria and separate request form in Resources section below

Inherited Bone Marrow Disorders Gene Panel (37 genes) - 42 day turnaround time
ACD, CSF3R, CTC1, DDX41, DKC1, ELANE, ERCC6L2, ETV6, FANCA, FANCC, FANCG, FANCM, G6PC3, GATA1, GATA2, HAX1, JAGN1, MPL, NHP2, PARN, RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS19, RPS24, RPS26, RPS29, RTEL1, RUNX1, TERT, TINF2, VPS45, WAS

Please find further information and separate request form (IBMFS Clinician Guide & Request Form) and an information document for patients (IBMFS Patient Information) in Resources section below

PanHaem Tumour Gene Panel (73 genes) - 42 day turnaround time
Contact laboratory to discuss requirement for this panel

Please note that NGS Gene Panels may detect germline variants with significant implications for both the patient and their family

Other Assays

  • Rapid Qualitative FLT3 ITD & TKD Analysis - 7 day turnaround time
  • Chimerism Analysis - 14 day turnaround time
  • Quantitative PCR
    • t(9;22) BCR-ABL1 - 7 day turnaround time
    • t(15;17) PML-RARA - 14 day turnaround time
    • inv(16) / t(16;16) CBFB-MYH11 - 14 day turnaround time
    • t(8;21) RUNX1-RUNX1T1 - 14 day turnaround time
    • NPM1 (all types, refer to request form) - 14 day turnaround time
  • Allele Specific ddPCR
    • JAK2 Val617Phe (quantitative) - 14 day turnaround time
    • MYD88 Leu265Pro - 21 day turnaround time
    • BRAF Val600Glu - 21 day turnaround time
  • IGHV Somatic Hypermutation (SHM) Analysis - 28 day turnaround time
  • HAVCR2 Variant Analysis
  • UBA1 Variant Analysis
  • Testing to determine germline vs somatic origin of a previously detected variant by NGS

CONTACT INFORMATION

Phone: +61 3 8559 7284
Fax :     +61 3 8559 5437