Haematological Oncology
Haematological Oncology was one of the first specialties to routinely incorporate genetic testing for diagnostic, prognostic, and therapeutic purposes.
Genetic testing plays a pivotal role in most haematologic neoplasms. The utilisation of genetic tests can clarify or make the diagnosis of a specific haematological malignancy, provide information about eligibility for specific treatments or prognosis, as well as help to monitor and evaluate depth of treatment response. There are many actionable and clinically significant genetic variations in haematological malignancies, with testing performed on blood or bone marrow. Genetic testing in haematological malignancies spans the full range of genetic techniques, from karyotyping to advanced molecular methods such as massively parallel sequencing.
Myeloproliferative Disorders
The V617F mutation is seen in a number of myeloproliferative disorders such as polycythaemia vera, essential thrombocytosis and idiopathic myelofibrosis.
| Test Name | Quantitative JAK2 V617F |
|---|---|
| Clinical Indication | To aid in the differential diagnosis and prognostic risk classification for myeloproliferative neoplasms, e.g. polycythaemia vera, essential thrombocythaemia and primary myelofibrosis |
| Gene(s) | JAK2 |
| Method | PCR genotyping |
| Turn around time | 2 weeks |
| Medicare Eligibility | 73325 – criteria apply |
| Sample Type/ Collection Type | Blood 10mL EDTA tube or Bone Marrow 4mL EDTA tube |
| Special Instructions | None |
JAK2 exon 12 variants are observed in a significant number of V617F negative cases of polycythaemia vera (PV), and are included as a WHO major criterion for the diagnosis of PV.
| Test Name | Quantitative JAK2 V617F |
|---|---|
| Clinical Indication | To aid in the differential diagnosis of patients with suspected polycythaemia vera where the JAK2 V617F variant is negative. |
| Gene(s) | JAK2 |
| Method | DNA sequencing |
| Turn around time | 2 weeks |
| Medicare Eligibility | 73396 – criteria apply |
| Sample Type/ Collection Type | Blood 10mL or 6mL EDTA tube or Bone Marrow 4mL EDTA tube |
| Special Instructions | None |
Calreticulin (CALR) exon 9 mutations are seen in a number of myeloproliferative neoplasms. Consider CALR mutations in conjunction with or following other molecular tests for these disorders.
| Test Name | CALR (Calreticulin) |
|---|---|
| Clinical Indication | In the diagnostic workup of myeloproliferative neoplasms |
| Gene(s) | CALR |
| Method | PCR fragment size analysis |
| Turn around time | 14 days |
| Medicare Eligibility | 73397 – criteria apply |
| Sample Type | Blood EDTA 10mL or Bone Marrow EDTA 4mL |
| Special Instructions | None |
The MPL mutations W515L and W515K are seen in a number of myeloproliferative disorders such as polycythaemia vera, essential thrombocytosis and idiopathic myelofibrosis. Consider testing in conjunction with or following other molecular tests for these disorders.
| Test Name | MPL (W515 mutations) |
|---|---|
| Clinical Indication | To aid in the differential diagnosis and prognostic risk classification for myeloproliferative neoplasms, e.g. polycythaemia vera, essential thrombocythaemia and primary myelofibrosis |
| Gene(s) | MPL (Thrombopoietin) |
| Method | PCR Genotyping |
| Turn around time | 4 weeks |
| Medicare Eligibility | 73397– criteria apply |
| Sample Type / Collection Type | Blood 10mL EDTA tube or Bone Marrow 4mL EDTA tube |
| Special Instructions | None |
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 |
| Test Name | Myeloproliferative neoplasm (MPN) 11 gene panel |
|---|---|
| Clinical Indication | For diagnostic work-up of a patient with laboratory evidence of essential thrombocythemia (ET) or polycythaemia vera (PV) |
| Gene(s) | JAK2, CALR (exon 9), MPL (exon 10), CSF3R (all), KIT (exons 2, 8, 9, 10, 11, 13, 17 and 18), SF3B1 (exons 10 to 16), SETBP1 (exon 4), SRSF2 (exon 1), RUNX1, TP53 and U2AF1 |
| Method | Next generation sequencing |
| Turn around time | 2 – 3 weeks |
| Medicare Eligibility | 73398 |
| Sample Type/ Collection Type | Blood 4mL EDTA tube or Bone Marrow 4mL EDTA tube |
| Special Instructions | Specialist/consultant physician request only |
| Test Name | Primary Myelofibrosis (PMF) 30 gene panel |
|---|---|
| Clinical Indication | For diagnostic work-up of a stem cell transplant eligible patient with clinical and laboratory evidence of primary myelofibrosis (PMF). |
| 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) |
| Method | Next generation sequencing |
| Turn around time | 4 weeks |
| Medicare Eligibility | 73399 |
| Sample Type/ Collection Type | Blood 4mL EDTA tube or Bone Marrow 4mL EDTA tube |
| Special Instructions | Specialist/consultant physician request only |
Myelodysplastic Syndromes and Myeloid Neoplasms
| 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. |
| 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. |
| 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.
| 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 |
| 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. |
| 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 |
| 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 Name | Myeloid 30 gene panel |
|---|---|
| Clinical Indication | For 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) |
| Method | Next generation sequencing |
| Turn around time | 4 weeks |
| Medicare Eligibility | 73447 |
| Sample Type/ Collection Type | Blood 4mL EDTA tube or Bone Marrow 4mL EDTA tube |
| Special Instructions | Specialist/consultant physician request only |
Lymphoid Neoplasms
| 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. |
B-cell immunoglobulin heavy chain (IgH) gene rearrangements
This test is for the IgH gene rearrangements (FR1, FR2 and FR3) and will detect greater than 80% of B-cell lymphoproliferative disorders.
T-cell Receptor (beta and gamma) gene rearrangements:
This test is for detecting monoclonality of T lymphocytes using primers targeted at both beta and gamma gene rearrangements, and will detect at least 90% of T-cell lymphoproliferative disorders.
Bcl-2
This test is specific for the major breakpoint region (mbr) of the bcl-2 associated translocation [t(14;18)]. This translocation is associated with up to 85% of lymphomas with a follicular morphology, and with approximately one third of diffuse large cell lymphomas.
Bcl-1
This test is specific for the translocation involving the Cyclin D1 gene [t(11;14)]. It is commonly associated with Mantle Cell Lymphoma (MCL).
| Test Name | T &/or B cell rearrangement |
|---|---|
| Clinical Indication | To determine clonality in lymphoproliferative disorders |
| Gene(s) | IGH |
| Method | Conventional PCR and fragment analysis |
| Turn around time | 2 weeks |
| Medicare Eligibility | No |
| Sample Type | Blood or bone marrow or Lymph node or Tumour |
| Special Instructions | None |
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 |
| 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. | |
| 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 | |
| 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 |
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