Myelodysplastic syndromes (MDS) are clonal haematological disorders characterized by haematopoietic cell dysplasia, peripheral blood cytopenias, and a predisposition for developing acute myeloid leukaemia (AML).  Genetic investigations for detection of chromosomal rearrangements (karyotyping and FISH) and somatic variants (NGS) are valuable for improving the diagnosis and management of patients with unexplained cytopenias. Somatic variants detected by NGS may further distinguish previously defined morphological MDS subtypes. Multiple pathogenic variants have been suggested to have independent prognostic value and may predict duration of response to current therapies.

The BCR-ABL1 gene fusion is commonly seen in chronic myeloid leukaemia and acute lymphoblastic leukaemia. The detection and quantitation of transcript levels is important in the diagnosis, treatment, and monitoring of the patients with these disorders.
Test Name BCR-ABL
Clinical Indication Used in the differential diagnosis, monitoring, and for treatment selection in patients with laboratory evidence of certain types of leukaemia.
Gene(s) BCR/ABL1 fusion
Method Real-time PCR
Turn around time 2 – 4 days
Medicare Eligibility 73314 – criteria apply
Sample Type/ Collection Type Blood 10mL EDTA tube or Bone Marrow 4mL EDTA tube
Special Instructions Bone marrow and diagnostic specimens must be received by the laboratory within 48 hours of collection. No collections Friday. Specimens for monitoring purposes must be received in the laboratory within 72hrs from collection. Collection can occur any day.
Mutations in the FLT3 and NPM1 genes are seen in acute myeloid leukaemia (particularly in cases with a normal cytogenetic karyotype) and are of prognostic significance.
Test Name Nucleophosmin & FLT3
Clinical Indication For diagnosis, prognosis, and classification in acute myeloid leukaemia
Gene(s) NPM1, FLT3
Method Real-time PCR analysis; Conventional PCR and capillary electrophoresis
Turn around time 14 days
Medicare Eligibility 73314
Sample Type/ Collection Type 6mL Blood EDTA tube or 1 mL bone marrow EDTA tube
Special Instructions Test is performed on either peripheral blood or bone marrow aspirate. Peripheral blood can be collected by a collector, bone marrow aspirate (doctor collect only) must be placed into EDTA.
Non-random chromosomal rearrangements are associated with different types of haematology-oncology neoplasms. Cytogenetic investigation using a combination of technologies may assist in the diagnosis, prognosis and staging of the haematological malignancy. Conventional cytogenetic analysis Conventional chromosome analysis and targeted FISH are the premier tests for the investigation of haematological malignancies. The conventional chromosome study involves microscopic examination and screening of the whole genome at the cellular level to detect large genomic changes and chromosomal rearrangements that may be prognostic or diagnostic indicators in malignant disease.
Test Name Chromosomes Bone Marrow Chromosomes Lymph Nodes Chromosomes Unstimulated Blood
Clinical Indication For diagnosis, classification, and prognosis in haem-oncology
Gene(s) All chromosomes
Method Conventional chromosome analysis
Turn Around Time Urgent 2 days; Routine 22 days 10 – 12 days 18 days
Medicare Eligibility 73290 73287 73290
Sample Type Bone marrow aspirate Lymph node Blood
Collection Type 1mL in 1x lithium heparin tube Sterile container of Antibiotic Transport Media. 6mL in 1x lithium heparin tube and 6mL in 1x tube
Special Instructions Doctor collect only. Add aspirate to a 2mL lithium heparin tube and mix gently. Transport cooled or at room temperature. See important notes below*. None

*Doctor collect. Sample must be kept sterile and moist. DO NOT USE FORMALIN. USE ANTIBIOTIC TRANSPORT MEDIA available from the Histology Department of your local laboratory. For overnight transport cover large specimens with ANTIBIOTIC TRANSPORT MEDIA OR STERILE NORMAL SALINE and sent to your local laboratory IMMEDIATELY. Please indicate if specimen is to be shared with Histology.

Chromosome microarray (also known as molecular karyotyping) is an advanced genome-wide investigation used to detect sub-microscopic DNA changes that are not detectable by conventional karyotype and/or fluorescence in-situ hybridisation (FISH). This technique can be used in the diagnostic investigation of haematological malignancies such as chronic lymphocytic leukemia, to detect regions of loss and/or gain of DNA and copy neutral loss of heterozygosity (CNLOH). This test will provide information about the genes involved in regions of copy number alteration. The information provided will assist in diagnosis, prognosis and staging of the malignancy and patient management. Microarray and targeted FISH analysis has recently been established as the gold standard cytogenomic investigation of CLL.
Test Name Chromosomes Unstimulated Blood
Clinical Indication For diagnosis, classification, and prognosis in haem-oncology
Gene(s) All chromosomes
Method Microarray analysis
Turn around time 18 days
Medicare Eligibility 73290
Sample Type Blood
Collection Type 6mL 1x lithium heparin tube and 6mL 1x EDTA tube
Special Instructions None
Fluorescence in-situ hybridisation (FISH) is a targeted molecular cytogenetic technique used for the investigation of precise chromosome regions, particularly relevant when a specific condition is suspected. The technique binds a colour labelled DNA probe to a specific region on the patient chromosomes. As this is a targeted test it is important when requesting a FISH test to indicate the clinical condition that is being tested for. A broad range of FISH is available for the detection of non-random rearrangements, deletions and chromosome aneuploidy that are associated with a haematological malignancy. FISH is a targeted investigation and has the benefit of screening large numbers of cells to detect clonal abnormalities.
Test Name FISH Haem-Oncology
Clinical Indication For diagnosis, classification, and prognosis in haem-oncology
Gene(s) See list of panels and individual targets below
Method FISH
Turn around time 2 – 14 days
Medicare Eligibility 73314 – Criteria applies
Sample Type Bone marrow Aspirate
Collection Type Lithium heparin tube
Special Instructions Doctor Collect. No additional sample required. Test is performed with Chromosome analysis.
Panel Testing
AML Panel PML/RARA; CBFB; Del5q; MLL; Del7q; IGH/MYC; Del 20q
Myelodysplastic syndrome Del5q; del7q; IGH/MYC; MLL; ETV6; del 20q
ALL IGH/MYC; BCR/ABL1; MLL; ETV6; IGH/FGFR3; CEP9; CEP 10; TP53; E2A/PBX1
Chronic Lymphocytic Leukemia IGH/CCND1; ATM; CEP12; del 13q14; TP53; MYB; RB1
Multiple Myeloma 1pq; IGH/CCND1; IGH BA; del 13q14; TP53; IGH/FGFR3; IGH/MAF; IGH/MAFB; IGH/CCND3
Lymphoma BCL6; IGH/MYC; IGH/CCND1; BIRC3/MALT1; RB1; del 13q14
Individual Probes
Syndrome/Indication Chromosome location
Acute myeloid leukemia AML/ETO t(8;21)(q22,q22)
Acute myeloid leukemia CBFB inv(16)(p12;q22)
Acute promyelocytic leukemia PML/RARA (15;17)(q22;q21.1)
B lymphocytic leukemia/lymphoma 1:19 rearrangements 1:19 rearrangements
B-cell disorders IGH 14q32
B-cell leukemias MLL 11q23
B-Cell lymphomas MYC 8q24
B-Cell lymphomas BIRC3/MALT t(11:18)(q21;q21)
B-Cell lymphomas IGK 2p11.2
B-Cell lymphomas IGL 22p11.2
Burkitt’s Lymphoma/ -like Leukemia IGH/MYC/CEP8 t(8;14)(q23;q32)
Chronic lymphocytic leukemia ATM 11q23
Chronic lymphocytic leukemia BCL3 19q13.32
Chronic lymphocytic leukemia Trisomy 12 centromere
Chronic lymphocytic leukemia MYB 6q23
Chronic lymphocytic leukemia/Myeloma 13q deletion 13q14.3
Chronic lymphocytic leukemia/Myeloma TP53 deletion 17p13
Chronic lymphocytic leukemia/Myeloma RB1 13q14.3
Chronic myelomonocytic leukemia PDGFRB BA 5q32
Follicular lymphoma IGH/BCL2 t(14;18)(q32;21)
Leukemia BCR/ABL t(9;22)(q34;q11.2)
Leukemias including treatment related Trisomy/monosomy 7 centromere
Mantle cell lymphoma/CLL IGH/CCND1-XT t(11;14)(q13;q32)
Multiple myeloma 1pq (CKS1B/CDKN2) amplification/deletion 1q21/1p32.3
Multiple myeloma IGH/CCND3 t(6;14)(p21;q32.2)
Multiple myeloma IGH/FGFR3 t(4;14)(p16.3;q32)
Multiple myeloma IGH/MAF translocation t(14;16)
Multiple myeloma IGH/MAFB translocation t(14;20)
Multiple myeloma IRF4 6p25.3
Myelodysplastic syndromes ETV6 12p13
Myeloid and lymphatic leukemias 1pq 1p36/1q25
Myeloid and lymphatic leukemias Trisomy 9 centromere
Myeloid and lymphoid neoplasms FIP1L1/PDGFRA: CHIC2- deletion 4q12
Myeloid leukemias EVI1 3q26.2
Myeloid neoplasms 5q deletion (5q- syndrome) 5q31.2
Myeloid neoplasms 7q deletion 7q22/7q31
Myeloproliferative disorders FGFR1 8p12
Myeloproliferative disorders/Myeloid neoplasms 20q deletion 20q12
Non-Hodgkin lymphomas BCL6 3q26
Non-Hodgkin lymphomas IGH/MALT1 t(14;18)(q32;q21)
Non-Hodgkin lymphomas PAX 5 9p12
T cell leukemias TCL1 breakapart 14q32.13

This panel offers comprehensive testing for genomic variants that can provide diagnostic and predictive information for patients with myeloid neoplasms and myelodysplastic syndromes, and can be customised to suit individual patient needs.

Test NameMyeloid 30 gene panel
Clinical IndicationFor diagnostic/prognostic work-up of AML/MDS.
Gene(s)ABL1 (4-9), ASXL1 (9, 11, 12), BRAF (15), CALR (9), CBL (8, 9), CEBPA (all), CSF3R (all), DNMT3A (all), ETV6 (all), EZH2 (all), FLT3 (13-15,
20), HRAS (2, 3), IDH1 (4), IDH2 (4), JAK2 (all), KIT (2, 8- 11, 13, 17,
18), KRAS (2, 3), MPL (10), NPM1 (10, 11), NRAS (2, 3), PTPN11 (3,
7-13), RUNX1 (all), SETBP1 (4), SF3B1 (10-16), SRSF2 (1), TET2 (all),
TP53 (all), U2AF1 (2, 6), WT1 (6-10), ZRSR2 (all)
MethodNext generation sequencing
Turn around time4 weeks
Medicare Eligibility73447
Sample Type/ Collection TypeBlood 4mL EDTA tube or Bone Marrow 4mL EDTA tube
Special InstructionsSpecialist/consultant physician request only

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