Oncology | Health Services Laboratories

Genetics tests: Oncology

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Test name
AML/ALL Molecular MRD – NPM1, PML-RARA, CBFB-MYH11, RUNX1-RUNX1T1, ETV6-RUNX1
Ashkenazi Breast Cancer Screen – common variants
B cell clonality assay (IgH and IgK)
BCR-ABL Diagnostic Assay
BCR/ABL Quantitative – fusion gene sizes p190 + p210
Breast Cancer – BRCA1 + BRCA2 only gene sequencing + deletions/duplications
Breast Cancer Ashkenazi Screen – common variants
Breast Cancer NGS Panel – full gene sequencing
C-KIT D816V variant by PCR for Mastocytosis
Colorectal Cancer NGS Panel – full gene sequencing + deletions/duplications
Endometrial Cancer NGS Panel – full gene sequencing + deletions/duplications
Familial Adenomatous Polyposis (FAP) – full gene sequencing + deletions/duplications
Familial Medullary Thyroid Carcinoma – hotspot sequencing RET gene
FLT3-ITD and FLT3-TKD screening assay
Hereditary Cancer NGS Panel, Comprehensive – full gene sequencing + deletions/duplications
Hereditary Colon Cancer (Lynch Syndrome) NGS Panel – full gene sequencing + deletions/duplications
IDH1/2 screening assay
IgVH variant analysis for CLL
Leukaemia (Rapid Acute) DNA and RNA NGS Panel
Leukaemia Fusion Gene Screening Assay (Q30)
Leukaemia/Lymphoma RNA Sequencing (Fusion Gene and SNV/Indel) Panel
Li-Fraumeni Syndrome (p53-related cancer predisposition) – TP53 sequencing + MLPA
Lynch Syndrome (HNPCC) NGS Panel – full gene sequencing + deletions/duplications
Melanoma Comprehensive Cancer NGS Panel – full gene sequencing + deletions/duplications
Multiple Endocrine Neoplasia Type 1 – full MEN1 sequencing
Multiple Endocrine Neoplasia Type 2 – RET gene hotspot sequencing
Myeloid Gene Panel
Myeloproliferative Neoplasm NGS Screening Panel
Nervous System/Brain Cancer NGS Panel – full gene sequencing + deletions/duplications
Neurofibromatosis Type 2 (Bilateral Acoustic) – NF2 sequencing + deletions/duplications
Ovarian Cancer NGS Panel – full gene sequencing + deletions/duplications
p53-related cancer predisposition (Li-Fraumeni Syndrome) – TP53 sequencing + MLPA
Pancreatic Cancer NGS Panel – full gene sequencing + deletions/duplications
Paraganglioma/Pheochromocytoma NGS Panel – full gene sequencing + deletions/duplications
Peutz-Jegher Syndrome – STK11 sequencing + deletions/duplications
Pheochromocytoma/Paraganglioma NGS Panel – full gene sequencing + deletions/duplications
Prostate Cancer NGS Panel – full sequencing + deletions/duplications
Renal/Urinary Tract Cancer NGS Panel – full gene sequencing + deletions/duplications
Retinoblastoma – RB1 sequencing + deletions/duplications
T cell clonality assay (TCR beta and TCR gamma)
Thyroid Cancer NGS Panel – full gene sequencing + deletions/duplications
Urinary Tract/Renal Cancer NGS Panel – full gene sequencing + deletions/duplications

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