Haematology investigates disorders of the blood and ensures transfusions are safe.

See our SydPath Next Generation Sequencing Service Guide here and our request forms here.

SydPath’s Haematology Laboratory provides both a diagnostic and clinical service in Haematology and Transfusion Medicine for several local and regional hospitals as well as specialists and general practitioners. In addition to these routine services, there is also a Haemopoietic Stem Cell Transplantation Laboratory and the department provides professional management of laboratory services for clinical trials and research.

The central automated laboratory and transfusion medicine laboratory operates 24 hours/day, 7 days/week providing a comprehensive range of laboratory services including:

  • Full blood count examination, ESR and screening for malaria and infectious mononucleosis
  • Haemostasis testing – both routine and specialised testing for the investigation of bleeding and thrombotic disorders
  • Anticoagulant therapy testing, monitoring and advice – this includes specialised testing for the novel/new oral anticoagulant drugs (i.e. dabigatran, rivaroxaban) as well as point-of-care INR testing for monitoring warfarin therapy
  • Haemoglobinopathy investigations and interpretation
  • Antenatal testing and blood transfusion support for trauma, transplant and surgical procedures
  • Bone marrow biopsy collection and reporting

SydPath Haematology is actively engaged in translational research in a number of areas including haemostasis, leukaemia and patient blood management.

A Haematologist trained in both laboratory and clinical haematology is available 24 hours to consult on issues such as test interpretation, dealing with critical results and new haematological diagnoses and providing expertise and advice in relation to patient blood management.

Haematology Cancer Genetics

The Haematology Cancer Genetics laboratory also offers a comprehensive cytogenomics testing service for diagnosis and prognostication in the setting of haematological malignancy. Our team is highly qualified and experienced in the performance and interpretation of tests in a wide range of referrals settings, including leukaemia, MDS, MPD, myeloma, CLL and lymphoma. Testing can be separated into Karyotyping, Fluorescence in-situ hybridisation (FISH) and SNP Array. A GeneXpert BCR::ABL1 PCR is also available.

Detailed Overview – Myeloid Next Generation Sequencing:

The Myeloid DNA panel is comprised of 45 key genes covering the most relevant targets associated with myeloid malignancies, including acute myeloid leukaemia (AML), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN) and myelodysplastic/myeloproliferative (MDS/MPN) overlap disorders. The assay detects somatic variants down to a 3% variant allele frequency, which can be useful for establishing accurate diagnoses (including differentiating malignant from non-malignant conditions), providing a guide to prognosis and identifying therapeutic targets and molecular markers for ongoing monitoring Each patient receives a personalised report incorporating the latest molecular classifications and knowledge. From November 1st 2023, this test is MBS subsidised for all eligible patients with suspected myeloid malignancies at diagnosis, disease progression or relapse.

Detailed Overview – Karyotyping:

Karyotype analysis of G-banded metaphases is currently the gold standard for suspected haematological malignancy. Identification of a clonal abnormality assists with identifying a diagnosis and predicting prognosis based on well characterised international guidelines. It allows a whole genome view for detection of balanced rearrangements and unbalanced copy number abnormalities at a single cell level with an average resolution of 3-5Mb. Markers established at diagnosis can be used to monitor disease progress after treatment.

Detailed Overview – Fluorescence in-situ Hybridisation (FISH):

Fluorescence in-situ hybridisation is a targeted genetic test performed at a single cell level. It has utility for investigation of balanced rearrangements and copy number abnormalities for well characterised genetic markers of malignancy in fresh and FFPE tissue. The laboratory carries an extensive range of FISH probes.

Detailed Overview – SNP Microarray:

SNP microarray testing provides a whole genome assessment of copy number abnormalities. It is an efficient, accurate method for simultaneous assessment of multiple regions of chromosome deletion and gain in fresh tissue without a requirement for actively dividing cells.

To contact the Haematology Cancer Genetics laboratory please call (02) 8382 9154.

Meet our Haematology Pathologists here