Cancer genetics - haematological malignancies
Oncomine Myeloid Assay
A targeted NGS panel for myeloid malignancies. Comprehensive somatic variant profiling across the genes that drive AML, MDS, MPN, and related haematological cancers in a single validated run.
NGS myeloid profiling
Myeloid-specific gene panel
Blood or bone marrow
Clinician-ordered
Overview
What this test is
Myeloid malignancies are defined at the molecular level. Accurate diagnosis, risk stratification, and treatment selection in AML, MDS, and MPN all depend on knowing which somatic variants are present, and in what combination. The Oncomine Myeloid Assay delivers that information in a single, validated NGS run.
The OMA is a targeted next generation sequencing panel developed by Thermo Fisher Scientific specifically for haematological malignancy profiling. It detects somatic mutations, insertions and deletions, copy number variants, and gene fusions across the genes most clinically relevant to myeloid cancers. Results support diagnosis confirmation, WHO classification, prognostic risk scoring, and treatment selection including targeted therapy and stem cell transplant eligibility assessment.
40+
genes covering the myeloid variant landscape
3
variant classes detected – mutations, CNVs and fusions
AML
acute myeloid leukaemia – primary indication
MDS
myelodysplastic syndromes including high-risk subtyping
Conditions covered
Myeloid malignancies this assay addresses
AML
Acute myeloid leukaemia
Somatic variant profiling supporting WHO classification, ELN risk stratification, and eligibility assessment for targeted agents including FLT3, IDH1, and IDH2 inhibitors.
MDS
Myelodysplastic syndromes
Mutation profiling supporting IPSS-M risk scoring, distinguishing high-risk from lower-risk disease, and informing decisions around hypomethylating agent therapy and transplant referral.
MPN
Myeloproliferative neoplasms
Detection of driver mutations in JAK2, CALR, and MPL alongside co-occurring somatic variants that influence prognosis and transformation risk in ET, PV, and MF.
CMML
Chronic myelomonocytic leukaemia
Broad somatic profiling across the genes most commonly mutated in CMML, supporting diagnosis and risk classification in a disease with highly variable molecular landscape.
MDS/MPN
Overlap syndromes
Comprehensive variant coverage across both MDS and MPN associated genes, supporting classification of overlap syndromes where single-gene testing is insufficient.
sAML
Secondary AML
Clonal evolution profiling supporting identification of secondary AML arising from antecedent MDS or MPN, with implications for treatment selection and transplant eligibility.
Variant coverage
What the assay detects
Somatic mutations (SNVs and indels)
Single nucleotide variants and small insertions and deletions across the key driver and co-mutation genes in myeloid malignancy. Includes detection of FLT3-ITD and FLT3-TKD, the most therapeutically actionable mutations in AML.
Copy number variants (CNVs)
Gene-level amplifications and deletions with prognostic and diagnostic relevance in myeloid disease, including detection of chromosomal abnormalities that inform WHO classification and risk scoring.
Gene fusions
Detection of recurrent myeloid fusions including RUNX1-RUNX1T1, CBFB-MYH11, PML-RARA, and KMT2A rearrangements – each with direct diagnostic and prognostic significance under current WHO criteria.
Internal tandem duplications
Sensitive detection of FLT3-ITD at clinically relevant allelic ratios. A critical determinant of ELN risk classification in AML and eligibility for FLT3 inhibitor therapy.
Key genes covered by the panel include:
FLT3, IDH1, IDH2, JAK2, NPM1, CALR, MPL, TET2, DNMT3A, ASXL1, RUNX1, TP53, SRSF2, SF3B1, U2AF1, EZH2, CBL, NRAS, KRAS, KIT, CEBPA, PHF6
Clinical utility
When to order this test
Diagnosis confirmation and WHO classification of newly diagnosed myeloid malignancy where molecular characterisation is required alongside morphology and cytogenetics
Risk stratification using ELN or IPSS-M scoring where a comprehensive somatic mutation profile is required to assign accurate prognostic category
Treatment selection where targeted therapy eligibility depends on confirmed molecular status including FLT3 inhibitors, IDH1 and IDH2 inhibitors, and venetoclax combinations
Relapse or progression workup where clonal evolution may have introduced new variants with therapeutic implications or altered the risk profile since initial diagnosis
Sample requirements
Accepted sample types
Peripheral blood
EDTA-collected peripheral blood. Suitable for patients with high blast counts or where bone marrow sampling is not immediately feasible.
Collected by phlebotomist
Bone marrow aspirate
The preferred sample type for myeloid malignancy profiling, providing optimal tumour cellularity and sensitivity for low-frequency variant detection.
Collected by haematologist
FFPE tissue
Formalin-fixed paraffin-embedded tissue where applicable, including trephine biopsy material in cases where aspirate yield is inadequate.
Collected by pathologist
Your result
What the report covers
Results are delivered as a comprehensive molecular profiling report covering the full somatic variant landscape of the submitted sample.
01
Somatic variant catalogue
A complete listing of detected mutations, CNVs, fusions, and ITDs across the panel gene list, with variant allele frequencies and clinical significance annotations aligned to current WHO and ELN criteria.
02
Therapeutic implications
Actionable variants are flagged against approved targeted therapies, clinical trial eligibility, and relevant companion diagnostic indications where applicable.
03
Prognostic context
Variant findings are contextualised against established prognostic frameworks including ELN 2022 risk classification for AML and IPSS-M for MDS, supporting accurate risk assignment at the point of reporting.
03
Co-mutation analysis
Where multiple variants are detected, co-mutation patterns are reported in clinical context. Combinations such as FLT3-ITD with NPM1, or TP53 with complex karyotype, carry distinct prognostic and therapeutic implications that require integrated interpretation.
Results are reported directly to the referring clinician.
Genetix geneticist reviews findings with your team before the report is finalised. Your patient's report is released only once you have authorised it.
Technical information
How the assay works
Next generation sequencing
The OMA uses targeted NGS to simultaneously profile somatic variants across all panel genes from a single sample input. Sequencing depth is optimised for myeloid samples, enabling sensitive detection of low-frequency variants including subclonal mutations of prognostic significance.
FLT3-ITD sensitive detection.
The assay is specifically designed to detect FLT3 internal tandem duplications across a wide size range and at clinically relevant allelic ratios. This is a known limitation of many standard NGS workflows that the OMA addresses through targeted panel design.
Validated for clinical use
The Oncomine Myeloid Assay is a Thermo Fisher Scientific validated platform. All processing is performed in our South African laboratory, with results reviewed by our genetics team before issue.
References
Thermo Fisher Scientific. Oncomine Myeloid Research Assay. Available at: thermofisher.com/za
Döhner H, et al. Diagnosis and management of AML in adults: 2022 ELN recommendations. Blood. 2022;140(12):1345-1377.
Molecular precision for myeloid malignancies.
Comprehensive somatic variant profiling across AML, MDS, MPN and related conditions.
All processed in South Africa, results reviewed by our genetics team before issue.