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OUR SERVICES
Molecular Genetics
Molecular Diagnostics (Haematology and Solid Tumour)
Austin Pathology Molecular Diagnostics laboratory offers services including massively parallel sequencing, fragment analysis, droplet digital PCR and quantitative RT-PCR for haematology and solid tumour testing in a NATA accredited setting.
Knowledge about the human genome and opportunities to use medical genetics and genomics in medical practice has expanded over the last couple of decades. Diagnosis, classification, therapeutics and disease monitoring of haematological and solid organ diseases rely on integration of morphological, immunophenotypic and genomic information.
Austin Pathology provides patient focused service with a high-level of clinical and scientific guidance that is supported by Haematologists, Anatomical Pathologists and Molecular Scientists.
Contact Details
- Lead Molecular Genetics Scientist: Dr Wasanthi De Silva
- Email: wasanthi.desilva@austin.org.au
- Supervising Molecular Haematologist: Dr Rishu Agarwal
- Email: rishu.agarwal@austin.org.au
- Supervising Solid Tumour Molecular Pathologist: Dr Jonathan Clark
- Email: jonathan.clark@austin.org.au
General Enquiries
- Email: molecular@austin.org.au
- Phone: 03 9496 5657
Click here to download the Molecular Haematology Request Form
Please check government eligibility criteria on the MBS Online Website for Medicare funded tests with the relevant MBS item numbers.
This panel utilises massively parallel sequencing technology to assess genetic variants (also referred to as mutations) that are important in different haematolymphoid disorders. Genes assessed in these panels are currently known to have important diagnostic, prognostic and therapeutic implications.
Haematolymphoid Disorders NGS Panel
Clinical Indication: Suspected myeloid malignancy
MBS Item No. 73447
Clinical Indication: Suspected lymphoid malignancy
MBS Item No. 73448
Clinical Indication: Primary Myelofibrosis, transplant eligible
MBS Item No. 73399
Gene List (73): ABL1, ASXL1, BAD, BAX, BCL2, BCL2L1, BCOR, BIRC3, BRAF, BTK, CALR, CARD11, CBL, CCND1, CD274, CD79B, CEBPA, CSF3R, CXCR4, DDX41, DNMT3A, EGR2, ETNK1, ETV6, EZH2, FBXW7, FLT3, FYN, GATA1, GATA2, ID3, IDH1, IDH2, IRF8, JAK2, KIT, KRAS, MAP2K1, MEN1, MPL, MYD88, , NOTCH1, NOTCH2, NPM1, NRAS, PDCD1LG2, PHF6, PIM1, PLCG1, PLCG2, PPM1D, PTEN, PTPN11, RHOA, RUNX1, SETBP1, SF3B1, SH2B3, SMARCA2, SMARCA4, SRSF2, STAG2, STAT3, STAT5B, STAT6, , TET2, TP53, U2AF1, UBA1, UBTF, WT1, XPO1, ZRSR2.
Myeloproliferative Neoplasm (MPN) NGS Panel
Clinical Indication: Myeloproliferative neoplasm (PV / ET)
MBS Item No: 73398
Gene List (23): ASXL1, CALR, CBL, CSF3R, DNMT3A, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NRAS, RUNX1, SETBP1, SF3B1, SRSF2, SH2B3, TET2, TP53, U2AF1
Test price and sample requirements:
IGH (Immunoglobulin heavy chain) and TCRɣ (T-cell receptor gamma) gene rearrangement tests utilise massively parallel sequencing to assess the IGH or TCRɣ sequences in the sample. The presence of a dominant IGH or TCRɣ sequence is suggestive of a monoclonal B- or T-cell lymphocyte population. This test is helpful in diagnosing B- or T-cell malignancies.
In acute lymphoblastic leukaemia (ALL), the IGH rearrangement identified at diagnosis can be used to assess response to therapy. Detection of the diagnostic IGH rearrangement at later timepoints of treatment is called measurable residual disease (MRD) and is more sensitive than routine morphological assessment. Monitoring MRD allows for prognostication and treatment decisions in ALL.
IGH Minimal Residual Disease (MRD) NGS Monitoring
Acute Lymphoblastic Leukaemia (ALL): MBS Item No. 73310
Please refer to the link in the Test Information and Sample Requirements for further information for non ALL patients.
IGH Gene Rearrangement NGS for Clonality Assessment
Acute Lymphoblastic Leukaemia (ALL): MBS Item No. 73310
Please refer to the link in the Test Information and Sample Requirements for further information for non ALL patients.
TCRɣ Gene Rearrangement NGS for Clonality Assessment
Non-Medicare Rebatable
Acute Lymphoblastic Leukaemia (ALL): MBS Item No. 73310
Please refer to the link in the Test Information and Sample Requirements for further information for non ALL patients.
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 3-4 Weeks
Test Information and Sample Requirements:
IGH Gene Rearrangement NGS for Clonality Assessment: Blood, Bone Marrow, Tissue
T-cell Receptor Gamma (TCRG) Gene Rearrangement NGS for Clonality Assessment: Blood, Bone Marrow, Tissue
IGH Minimal Residual Disease (MRD) NGS Monitoring: Blood, Bone Marrow, Tissue
Chronic Lymphocytic Leukaemia (CLL) Somatic Hypermutation Analysis utilises massively parallel sequencing to assess the presence or absence of abnormal VH gene sequences in the CLL population. The assay is part of the initial work-up for CLL and used for assessing disease prognosis and treatment decisions.
Non-Medicare Rebatable
Please refer to the link in the Test Information and Sample Requirements.
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 3-4 Weeks
Test Information and Sample Requirements:
IGHV Somatic Hypermutation Analysis: Blood, Bone Marrow
This test utilises the Cepheid GeneXpert Instrument Systems Xpert® BCR-ABL Ultra test to detect the presence of BCR::ABL1 p190 and p210. It is part of the diagnostic workup for new cases of chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia (ALL). It can also be used during treatment and on follow-up to assess for response to therapy and detect early disease relapse.
MBS Item No. 73314
Please contact us for pricing for Non-Medicare eligible patients.
Method: GeneXpert Reverse transcription quantitative PCR (RT-qPCR)
Expected Turnaround Time: 2-5 Days
Test Information and Sample Requirements:
BCR::ABL1 Translocation: Blood, Bone Marrow
This test utilises the Cepheid GeneXpert Instrument Systems to detect the presence of NPM1 Type A, Type B and Type D mutations (in NM_002520.6 exon 11). This test is used to assess the response to therapy in AMLs with NPM1 mutations and is more sensitive than morphological assessment to detect measurable residual disease (MRD). Monitoring MRD in AML allows for prognostication and treatment decisions.
Please note that the Xpert NPM1 Mutation assay does not distinguish among the different NPM1 Type A, B, or D mutations and is not designed to detect or monitor other rare types of mutant NPM1. Full assessment of NPM1 exon 11 is available with the Myeloid NGS Panel assay.
MBS Item No. 73314
Please contact us for pricing for Non-Medicare eligible patients.
Method: GeneXpert Reverse transcription quantitative PCR (RT-qPCR)
Expected Turnaround Time: 2-5 Days
Test Information and Sample Requirements:
NPM1 MRD (Type A, B or D): Blood, Bone Marrow
This test utilises PCR amplification and capillary electrophoresis to detect FLT3 and NPM1 mutations for the workup of new cases of acute myeloid leukaemia (AML). It is specific for FLT3 internal tandem duplications (ITD) and FLT3 mutations in the tyrosine kinase domain (TKD) at codon position 835 and 836. Also detects possible exon 11 clustered multiple insertional or insertion/deletions of NPM1 gene. It has a rapid turnaround time to assess in diagnosing and risk assessment of new cases of AML. Full sequencing assessment of FLT3 and NPM1 is available with the Myeloid NGS Panel assay.
MBS Item No. 73314
Please contact us for pricing for Non-Medicare eligible patients.
Method: Fragment Analysis
Expected Turnaround Time: 7 Days
Test Information and Sample Requirements:
Initial Diagnosis: Blood, Bone Marrow
Mutation Analysis: Blood, Bone Marrow
This test utilises droplet digital PCR (ddPCR) to assess for the presence of the JAK2 V617F mutation. Detection of JAK2 mutations is essential for the diagnosis of myeloproliferative neoplasms (MPN). Utilising ddPCR also allows for accurate quantification of the JAK2 V617F mutation, providing valuable information on prognosis and treatment response.
MBS Item No. 73325
Please contact us for pricing for Non-Medicare eligible patients.
Method: Droplet Digital PCR
Expected Turnaround Time: 1-2 Weeks
Test Information and Sample Requirements:
JAK2 (V617F): Blood
This test utilises droplet digital PCR (ddPCR) to assess for the presence of the MYD88 L265P mutation. Detection of the MYD88 mutation assists in the diagnosis of Waldenstrom’s macroglobulinaemia and other B-cell lymphoproliferative disorders.
Non-Medicare Rebatable
Please refer to the link in the Test Information and Sample Requirements.
Method: Droplet Digital PCR
Expected Turnaround Time: 1-2 Weeks
Test Information and Sample Requirements:
MYD88 (L265P): Blood, Bone Marrow
This test utilises the Cepheid GeneXpert Instrument System to detect the presence Prothrombin (also known as FII) G20210A and Factor V Leiden G1691A mutations. Testing for these 2 mutations is commonly performed to assess the cause and risk for thromboembolism (blood clots).
Please contact us for pricing for Non-Medicare eligible patients.
Method: GeneXpert RT-PCR
Expected Turnaround Time: 7 Days
Test Information and Sample Requirements:
Factor II & V Leiden: Blood
Click here to download the Molecular Solid Tumour Request Form
Please check government eligibility criteria on the MBS Online Website for Medicare funded tests with the relevant MBS item numbers.
The BRCA Tumour NGS Panel detects somatic mutations in BRCA1 and BRCA2 to assess eligibility for PARP (poly-ADP ribose polymerase) inhibitor therapy under the Pharmaceutical Benefits Scheme (PBS). BRCA mutations are associated with homologous recombination deficiency (HRD) and may predict PARP inhibitor response, supporting personalised treatment selection in ovarian, fallopian tube, primary peritoneal, and metastatic castration-resistant prostate cancer.
Gene List: BRCA1 & BRCA2
MBS Item No. 73301 - Advanced (FIGO III-IV), high grade serous or high grade epithelial ovarian, fallopian tube or primary peritoneal cancer
MBS Item No. 73303 - Metastatic castration-resistant prostate cancer
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: BRCA Tumour NGS Panel: Tissue
The mutation status of KRAS/NRAS and BRAF is indicative of the sensitivity of anti-EGFR and targeted BRAF therapies. A small proportion of colorectal carcinomas have amplification of ERBB2 (HER2), and may respond to anti-Her2 therapy.
Gene List: APC, ARID1A, BRAF, CTNNB1, EPCAM, ERBB2, KRAS, MLH1, MSH2, MSH6, NRAS, PIK3CA, PMS2, POLE, SMAD4, TP53.
MBS Item No. 73338
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, Price, and Sample Requirements:
Colorectal NGS Panel: Tissue
The next-generation sequencing (NGS) panel for endometrial carcinoma assesses the mutation status of POLE, PIK3CA, ERBB2 and TP53, which could influence the prognosis and management strategies for patients.
Gene List: ARID1A, CTNNB1, EPCAM, ERBB2, KRAS, MLH1, MSH2, MSH6, PIK3CA, PIK3R1, PMS2, POLE, PTEN, TERT, TP53.
Non-Medicare Rebatable
Please refer to the link in the Test Information and Sample Requirements.
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, Price and Sample Requirements:
Endometrial Carcinoma NGS Panel: Tissue
The Epilepsy NGS Panel assesses a comprehensive list of genes associated with malformations of cortical development, such as focal cortical dysplasia, which cause epilepsy. The identification of somatic mutations in these genes may complement the histological assessment in characterizing the type of lesion causing a patient’s epilepsy.
Gene List: AKT1, AKT3, ATP2A1, BRAF, CBL, DEPDC5, EGFR, FGFR1, FGFR2, GNA11, GNAQ, GRIN2C, HRAS, KLHL22, KRAS, LZTR1, MAP2K1, MAP3K3, MTOR, NPRL2, NPRL3, NRAS, PIK3CA, PIK3R1, PPFIA4, PTEN, PTPN11, RAF1, RHEB, RIT1, SF3B1, SLC35A2, SOS1, TEK, TSC1, TSC2.
Non-Medicare Rebatable
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Epilepsy NGS Panel: Tissue
The gastrointestinal stromal tumor (GIST) NGS panel is characterised by the presence of activating mutations in genes such as KIT, PDGFRA, or BRAF. The nature of these mutations can influence both prognosis and the effectiveness of tyrosine kinase inhibitor (TKI) therapy.
Gene List: BRAF, CDKN2A, CDKN2B, HRAS, KIT, KRAS, NF1, NRAS, PDGFRA, PIK3CA, RB1, SDHA, SDHB, SDHC, SDHD, TP53
Non-Medicare Rebatable
Please refer to the link in the Test Information and Sample Requirements.
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, Price, and Sample Requirements:
Gastrointestinal Stromal Tumour (GIST) NGS Panel: Tissue
The Glioma NGS Panel evaluates numerous genes and copy number variations, including identification of 1p and 19q deletion and CDKN2A/B deletion which are critical for the classification and management of gliomas. Mutation status in genes like IDH1/IDH2, H3F3A, and TP53 helps inform diagnosis, prognosis and personalized treatment planning.
Gene List: 1p & 19q CNV, AKT3, ATRX, BRAF, CDKN2A, CDKN2B, CIC, DICER1, DROSHA, EGFR, FGFR1, FGFR2, FUBP1, H3F3A, HISTH3B, IDH1, IDH2, KBTBD4, KRAS, MAP2K1, MET, MTAP, MTOR, MYB, MYC, MYCN, NF1, NF2, PDGFRA, PIK3CA, PIK3R1, POLE, PRKCA, PTEN, PTPN11, RB1, TERT, TP53, TSC1, TSC2.
MBS Item No. 73429
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Glioma NGS Panel: Tissue
The Kidney and Bladder NGS Panel focuses on mutations in genes such as FH, TFEB, and CDKN2A. The mutational profile of the tumour can affect the prognosis and guide treatment selection for kidney and bladder carcinomas.
Gene List: CDKN2A, CDKN2B, ELOC, FGFR3, FH, KRAS, MET, MTOR, RB1, SDHA, SDHB, SDHC, SDHD, TERT, TFEB, TP53, TSC1, TSC2.
Non-Medicare Rebatable
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Kidney & Bladder NGS Panel: Tissue
The identification of particular EGFR mutations in non-small cell lung cancer (NSCLC) serves as a marker for either sensitivity or resistance to specific tyrosine kinase inhibitors available through the Pharmaceutical Benefits Scheme. The descriptions of relevant MBS Items are provided below for reference. Furthermore, fusions involving ALK, ROS1 and RET, and mutations in KRAS, BRAF, ERBB2 (HER2), and MET can also guide targeted therapy. In the context of previous targeted therapy for NSCLC this NGS assay can identify acquired resistance mutations and copy number alterations which may influence the selection of therapeutic options. Genes commonly altered in mesothelioma, including BAP1, CDKN2A and CDKN2B are also evaluated by the panel.
Gene List: ALK, BAP1, BRAF, CDKN2A, CDKN2B, EGFR, ERBB2, GNAS, HRAS, KEAP1, KRAS, MAP2K1, MET, MTAP, MYC, NF1, NF2, NRAS, PIK3CA, PTPN11, RB1, RET, ROS1, SMARCA4, STK11, TERT, TP53. Fusions: ALK, RET, ROS1.
MBS Item No. 73438 - New Diagnosis of Non-small cell lung cancer (NSCLC)
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Non-Small Cell Lung Carcinoma (NSCLC) NGS Panel: Tissue
MBS Item No. 73436
To determine requirements relating to MET exon 14 skipping status.
The identification of particular EGFR mutations in non-small cell lung cancer (NSCLC) serves as a marker for either sensitivity or resistance to specific treatments available through the Pharmaceutical Benefits Scheme. The descriptions of MBS Items are provided below for reference.
MBS Item No. 73337 - EGFR gene status for access to an EGFR TKI or Pembrolizumab
MBS Item No. 73351 - NSCLC (Stage IIIB or IV), new sample following progression after treatment with an EGFR tyrosine kinase inhibitor. To determine EGFR T790M status for access to Osimertinib.
Method: Automated real-time PCR (Idylla)
|
Exon 18 |
G179A |
c.2156G>C |
|
G179C |
c.2155G>T; c.2154_2155delinsTT |
|
|
G179S |
c.2155G>A |
|
|
Del9 |
c.2238_2248delinsGC c.2239_2248delinsC |
|
|
|
c.2240_2248del c.2239_2247del |
|
|
Del12 |
c.2239_2251delinsC c.2240_2251del |
|
|
Exon 19 |
Del15 |
c.2235_2249del c.2236_2250del c.2239_2253del c.2240_2254del c.2238_2252del c.2237_2251del c.2235_2252delinsAAT c.2237_2252delinsT c.2234_2248del c.2236_2253delinsCTA c.2237_2253delinsTA c.2235_2251delinsAG c.2236_2253delinsCAA c.2230_2249delinsGTCAA |
|
Del18 |
c.2240_2257del c.2237_2255delinsT c.2239_2256del c.2236_2253del c.2239_2258delinsCA c.2237_2254del c.2238_2255del c.2237_2257delinsTCT c.2236_2256delinsAT c.2236_2256delinsATC c.2237_2256delinsTT c.2237_2256delinsTC c.2235_2255delinsGGT |
|
|
Del21 |
c.2238_2258del c.2236_2256del |
|
|
Del24 |
c.2253_2276del |
|
|
Exon 20 |
T790M |
c.2369C>T |
|
S768I |
c.2303G>T |
|
|
insG |
c.2310_2311insGGT |
|
|
insASV9 |
c.2308_2309insGCCAGCGTG |
|
|
insASV11 |
c.2308_2311delinsCCAGCGTGGAT |
|
|
insSVD |
c.2311_2312insGCGTGGACA |
|
|
insH |
c.2319_2320insCAC |
|
|
Exon 21 |
L858R |
c.2573T>G |
|
c.2573_2574delinsGT |
||
|
c.2573_2574delinsGA |
||
|
L861Q |
c.2582T>A |
Expected Turnaround Time: 1-2 Business Days
Test Information and Sample Requirements:
Non-Small Cell Lung Carcinoma (NSCLC) EGFR Idylla Test: Tissue
The mutation status of this panel holds significant therapeutic implications, particularly with regard to the BRAF gene, which is linked to therapeutic responses in metastatic melanoma, specifically in relation to BRAF and MEK-inhibitor therapies. Additionally, mutations in the NRAS and KIT genes are gaining attention for their potential roles in targeted therapies. Melanomas with KIT mutations may exhibit responsiveness to KIT tyrosine kinase inhibitors, while those with NRAS mutations could demonstrate enhanced sensitivity to MEK inhibitors.
Gene List: APC, BAP1, BRAF, CCND1, CDK4, CDKN2A, CDKN2B, CTNNB1, GNA11, GNAQ, HRAS, KIT, KRAS, MAP2K1, MDM2, MITF, MTOR, NF1, NRAS, PIK3CA, PTEN, SF3B1, TERT, TP53.
MBS Item No. 73336
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, Price, and Sample Requirements:
Melanoma NGS Panel: Tissue
BRAF mutations have been associated with clinical responses to Tyrosine Kinase Inhibitors (TKIs) in individuals diagnosed with metastatic melanoma. Furthermore, clinical trials indicate that patients with BRAF mutations exhibit enhanced responses when treated with combined therapies.
MBS Item No. 73336
Method: Automated real-time PCR (Idylla) – List of targeted mutations
|
BRAF V600E |
(c.1799T>A) |
|
BRAF V600E2 |
(c.1799_1800delinsAA) |
|
BRAF V600D |
(c.1799_1800delinsAT & c.1799_1800delinsAC) |
|
BRAF V600K |
(c.1798_1799delinsAA) |
|
BRAF V600R |
(c.1798_1799delinsAG) |
|
BRAF V600M |
(c.1798G>A) |
|
BRAF Wild Type |
(c.1799T) |
Expected Turnaround Time: 1-2 Business Days
Test Information and Sample Requirements:
Melanoma Idylla (BRAF) Test: Tissue
The Mismatch Repair (MMR) NGS Panel detects mutations in the mismatch repair genes MLH1, MSH2, MSH6, PMS2, and EPCAM. The status of these genes is crucial for identifying Lynch Syndrome-associated tumours and predicting response to certain immunotherapies.
Gene List: EPCAM, MLH1, MSH2, MSH6, PMS2.
Non-Medicare Rebatable
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, Price and Sample Requirements: MMR NGS Panel: Tissue
Mutations in FOXL2 are found in a significant proportion of both primary and metastatic adult granulosa cell tumours and assists in confirming this diagnosis. The mutation status of other genes in the Ovarian SCST NGS may assist in diagnosing other SCST like juvenile granulosa cell tumour and may have implications for targeted therapies.
Gene List: AKT1, DICER1, FOXL2, GNAS, IDH1, IDH2, TERT.
MBS Item No. 73377
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Ovarian SCST NGS Panel: Tissue
The Ovarian Serous NGS Panel includes BRCA1, BRCA2, TP53, and other DNA repair pathway genes. The results assist in therapeutic decision-making, particularly regarding PARP inhibitor eligibility and prognosis for high-grade serous ovarian carcinoma.
Gene List: ARID1A, ATM, BRAF, BRCA1, BRCA2, BRIP1, CDK12, CDKN2A, CDKN2B, CHEK1, CHEK2, ERBB2, FANCA, FANCL, KRAS, NBN, NRAS, PALB2, PIK3CA, RAD51C, TP53.
MBS Item No. 73301
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Ovarian Serous NGS Panel: Tissue
The Pancreas and Liver NGS Panel examines mutations across a broad range of genes, which can assist in further defining the histological diagnosis, determine prognosis or guide targeted therapy, for example in the context of IDH1 mutation. Mutations in MMR genes may predict a response to immunotherapy.
Gene List: ARID1A, ATM, ATRX, BRAF, BRCA1, BRCA2, CDKN2A, CDKN2B, CHEK2, CTNNB1, DAXX, EPCAM, GNAS, HNF1A, IDH1, IDH2, IL6ST, KDM6A, KMT2C, KMT2D, KRAS, MEN1, MLH1, MSH2, MSH6, PALB2, PBRM1, PMS2, RAD51A, RAD51B, RAD51C, RAD54L, RB1, RNF43, SMAD4, SMARCA4, TP53.
Non-Medicare Rebatable
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Pancreas and Liver NGS Panel: Tissue
The Prostate NGS Panel is specifically designed to detect mutations in DNA repair pathway genes like BRCA1, BRCA2, ATM, and PALB2. The status of these genes is essential for determining a patient's eligibility for targeted therapies, such as PARP inhibitors, in advanced prostate cancer.
Gene List: ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCA, FANCL, MRE11, NBN, PALB2, RAD51A, RAD51B, RAD51C, RAD54L.
MBS Item No. 73303
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Prostate NGS Panel: Tissue
The Thyroid NGS Panel identifies mutations in key genes including BRAF, the RAS gene family, and PIK3CA. In addition, the panel also detects clinically significant gene fusions, involving genes including RET and ALK. The molecular findings from this panel are critical for refining the diagnosis, assessing the risk of recurrence, and guiding the use of targeted systemic therapies for thyroid carcinoma.
Gene List: AKT1, BRAF, CDKN2A, CDKN2B, CHEK2, CTNNB1, EIF1AX, HRAS, KRAS, NRAS, PIK3CA, POLE, PTEN, RET, TERT, TP53. Fusions: ALK, CCDC6, EML4, NCOA4, RET..
Non-Medicare Rebatable
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: Thyroid NGS Panel: Tissue
Non-Medicare Rebatable
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 1-2 Weeks
Test Information, Price and Sample Requirements: Single Gene Test on NGS NGS Panel: Tissue
The methylation of the MLH1 promoter is associated with loss of MLH1 protein expression. Tumours that display elevated microsatellite instability (MSI-H) and/or demonstrate absent MLH1/PMS2 staining through immunohistochemical analysis will undergo assessment for MLH1 promoter methylation. Absence of MLH1 promoter methylation is associated with an increased likelihood of germline mutation in a DNA mismatch repair gene.
Non-Medicare Rebatable
Please refer to the link in the Test Information and Sample Requirements.
Method: MS-MLPA
Expected Turnaround Time: 2-3 Weeks
Test Information, Price, and Sample Requirements:
MLH1 Promoter Methylation Analysis: Tissue
The MGMT (O⁶-methylguanine-DNA methyltransferase) Promoter Methylation Analysis is a key molecular test for high-grade gliomas, such as Glioblastoma (GBM). The test identifies epigenetic silencing of the MGMT gene, a DNA repair mechanism. When the promoter is methylated, the gene is turned off, reducing DNA repair and making the tumour cells highly susceptible to damage from alkylating chemotherapy (e.g., temozolomide/TMZ). Therefore, a methylated result serves as a strong prognostic and predictive biomarker for patient benefit from TMZ treatment.
This assay covers Methylation specific Multiplex Ligation dependent Probe Amplification (MLPA) to detect aberrant methylation of the MGMT gene. This assay also detects the presence of IDH1 (R132H & R132C), IDH2 (R172K & R172M) and TERT promoter (C228T & C250T) point mutations in a DNA sample.
MBS Item No. 73373
Please refer to the link in the Test Information and Sample Requirements.
Method: MS-MLPA
Expected Turnaround Time: 1-2 Weeks
Test Information, price and Sample Requirements: MGMT Promoter Methylation: Tissue
The coverage of genes listed in all the sub panels (colorectal, melanoma, NSCLC, ovarian granulosa cell tumour, endometrial carcinoma, GIST) and the full solid tumour NGS panel are listed below.
1p 19q: Whole arm CNV detection of 1p and 19q
ACVR2A (NM_001616.5: exon 11)
AIM2 (NM_004833.3: exon 6)
AKT1 (NM_005465.7: exon 4)
AKT3 (NM_005465.7: exon 3)
ALK (NM_004304.5: exons 20-25)
APC (NM_000038.6: exons 1-16)
ARID1A (NM_006015.6: exons 1-20)
ASTE1 (NM_014065.4: exon 7)
ATM (NM_00051.4: exons 3-64)
ATP2A1 (NM_004320.6: exon 14, 18)
ATR (NM_001184.4: exons 1-47)
ATRX (NM_000489.6: exons 1-35)
BAP1 (NM_004656.4: exons 1-17)
BARD1 (NM_000465.2: exons 1-11)
BRAF (NM_004333.6: exons 8, 11-15)
BRCA1 (NM_007294.4: Exons 1-23)
BRCA2 (NM_000059.4: exons 1-27)
BRIP1 (NM_032043.2: exons 2-20)
CBL (NM_005188.4: exons 1-16)
CCND1 (NM_053056.3: exon 5)
CDK12 (NM_016507.4: exons 1-14)
CDK4 (NM_000075.5: exon 2)
CDKN2A (NM_000077.5: exons 1-3)
CDKN2B NM_004936.4: exons 1-2)
CHEK1 (NM_001114122.3: exons 2-13)
CHEK2 (NM_007194.4: exons 2-15)
chr10 (Whole chromosome CNV detection)
chr7 (Whole chromosome CNV detection)
CIC (NM_001386298.1: exons 1-21)
CTNNB1 (NM_001904.4: Exon 3, 6-9)
DAXX (NM_001141969.2: exons 2-8)
DEPDC5 (NM_001242896.3: exons 2-43)
DICER1 (NM_177438.3: exons 4-29)
DROSHA (NM_001382508.1: CNVs only)
EGFR (NM_005228.5: exons 2, 3, 6-9, 15, 18, 19-21)
EIF1AX (NM_001412.4: exon 2, 6)
ELOC (NM_005648.4: exon 4)
EPCAM (NM_002354.3: Exons 1-9)
ERBB2 (NM_004448.3: exons 10, 19-21, 24)
ESR1 (NM_000125.4: exons 7, 8)
FANCA (NM_000135.4: exons 1-43)
FANCL (NM_018062.4: exons 1-14)
FGFR1 (NM_023110.3: exons 12, 13, 15, ITD in TK domain )
FGFR2 (NM_000141.5: exons 5,7, 9, 12, 14, 16)
FGFR3 (NM_000142.5: exons 7, 9, 11, 13, 14)
FH (NM_000143.4: exons 1-10)
FOXL2 (NM_023067.4: exon 1)
FUBP1 (NM_003902.5: exons 1-21)
GNA11 (NM_002067.5: exons 4, 5)
GNAQ (NM_002072.5: exons 4, 5)
GNAS (NM_00516.7: exons 6-9)
GRIN2C (NM_000835.6: exon7)
H3F3A (NM_002107.7: exon 2)
HISTH3B (NM_003537.4: exon 1)
HNF1A (NM_000545.8: exons 1-10)
HRAS (NM_005343.4: exons 2, 3)
IDH1 (NM_005896.4: exons 3, 4)
IDH2 (NM_002168.4: exon 4)
IL6ST (NM_002184.4: exons 3-17)
KBTBD4 (NM_018095.6: exon 4)
KDM6A (NM_001291415.2: exons 1-29)
KEAP1 (NM_203500.2: exons 2-6)
KIT (NM_000222.3: exons 2, 8-15, 17, 18)
KLHL22 (NM_032775.4: exon 2)
KMT2C (NM_170606.3: exons 1-59)
KMT2D (NM_003482.4: exons 1-54)
KRAS (NM_004985.5: exons 2-4)
LZTR1 (NM_006767.4: exons 1-21)
MAP2K1 (NM_002755.4: exons 2, 3, 5-7)
MAP3K3 (NM_002401.5: exon 13)
MARCKS (NM_002356.7: exon 2)
MDM2 (NM_002392.6: CNVs only)
MEN1 (NM_001370259.2: exons 2-10)
MET (NM_000245.4: exons 2, 11, 14, 16, 19, 21)
MITF (NM_000248 / NM_001354604.2: CNVs only)
MLH1 (NM_000249.4: exons 1-19)
MRE11 (NM_005591.4: exons 2-20)
MSH2 (NM_000251.3: exons 1-16)
MSH6 (NM_000179.3: exons 1-10)
MTOR (NM_004958.4: exons 30, 39, 40, 43, 47, 48, 50, 56)
MYB (NM_001130173.2: CNVs only)
MYC (NM_002467.6: CNVs only)
MYCN (NM_005378.6: exons 1-3)
NBN (NM_002485.5: exons 1-16)
NF1 (NM_001042492.3: exons 1-58)
NF2 (NM_00268.4: exons 1-16)
NPRL2 (NM_006545.5: exons 1-11)
NPRL3 (NM_001077350.3: exons 1-12)
NRAS (NM_002524.5: exons 2-4)
PALB2 (NM_024675.4: exons 1-15)
PBRM1 (NM_001405607.1: exons 4-32)
PDGFRA (NM_006206.6: exons 8, 12-15, 18, 23)
PIK3CA (NM_006218.4: exons 2, 5, 7, 8, 10, 12, 14, 19-21)
PIK3R1 (NM_181523.3: exons 10, 11, 13, 14)
PMS2 (NM_000535.7: exons 1-15)
POLE (NM_006231.4: exons 9, 10-14)
PPFIA4 (NM_001304331.2: exon 16)
PRKAR1A (NM_002734.5: exons 2-11)
PRKCA (NM_002737.3: exon 13)
PRKD1 (NM_002742.3: exon 15)
PTEN (NM_000314.8: exons 1-9)
PTHLH (NM_198965.2: exon 3)
PTPN11 (NM_002834.5: exons 3, 4, 7, 8, 12, 13)
RAD51A (NM_002875.5: exons 2-10)
RAD51B (NM_133510.4: exons 2-11)
RAD51C (NM_058216.3: exons 1-9)
RAD54L (NM_003579.4: exons 2-19)
RAF1 (NM_002880.4: exons 7, 11, 14)
RB1 (NM_000321.3: exons 1-27)
RET (NM_020975.6: exons 5,8, 10, 11, 13-16)
RHEB (NM_005614.4: exon 2)
RIT1 (NM_006912.6: exons 1-6)
RNF43 (NM_017763.6: exons 2-10)
ROS1 (NM_001378902.1: exons 31-42)
SDHA (NM_004168.4: exons 1-15)
SDHB (NM_003000.3: exons 1-8)
SDHC (NM_003001.5: exons 1-6)
SDHD (NM_003002.4: exons 1-4)
SF3B1 (NM_012433.4: exon 15)
SLC35A2 (NM_005660.3: exons 1-4)
SMAD4 (NM_005359.6: exons 2-12)
SMARCA4 (NM_003072.5: exons 2-36)
SOS1 (NM_005633.4: exon 6)
STK11 (NM_000455.5: exons 1-9)
TAF1B (NM_0005680.3: exon 3)
TEK (NM_000459.5: exons 15, 17, 23)
TERT (NM_198253.3: promoter region only)
TFEB (NM_001271944.2: CNVs only)
TGFBR2 (NM_003242.6: exon 4)
TP53 (NM_000546.6: exons 1 (incl UTR), 2-11)
TSC1 (NM_000368.5: exons 3-23)
TSC2 (NM_000548.5: exons 2-42)
Fusions: ALK (NM_004304.5)
RET (NM_020975.6)
ROS1 (NM_001378902.1)
CCDC6 (NM_005436.5)
EML4 (NM_019063.5)
NCOA4 (NM_001145263.2)
Non-Medicare Rebatable
Please refer to the link in the Test Information and Sample Requirements.
Method: Next Generation Sequencing (NGS)
Expected Turnaround Time: 2-3 Weeks
Test Information, Price, and Sample Requirements:
Solid Tumour NGS Full Panel: Tissue
