OGM-Dx HemeOne is a laboratory developed test (LDT) that detects structural variants (SVs) defined by professional & medical guidelines as cytogenomic targets that aid in the diagnosis, prognosis, and therapeutic management of individuals with hematologic malignancies.
This assay is indicated for individuals who are suspected of having a new diagnosis of a hematological malignancy and for individuals who have an existing diagnosis of a hematological malignancy, such as:
This LDT utilizes optical genome mapping (OGM), a technique that provides genome-wide assessment of all classes of SVs, including: aneuploidies, large and small copy number variants, unbalanced rearrangements, insertions, inversions, and translocations. The OGM-Dx HemeOne reports from this LDT will include a whole genome analysis to assess for complex genomes as well as a targeted evaluation of actionable SVs that are recommended to be tested across multiple guidelines.
Bionano Laboratories offers unlimited clinical support to patients and providers through access to our genetic counselors who can discuss testing capabilities, strategy, informed consent, and results.
Providers can call our genetic counselors at
Optical genome mapping (OGM) is performed on the commercially available Saphyr system (Bionano Genomics, Inc. USA). This technique is based on site-specific labeling of ultra-high molecular weight DNA followed by imaging of the DNA molecules during linearization within nanochannel arrays. This allows for the detection of structural variants at a very high resolution and sensitivity at genome-wide resolution. All classes of structural variants (SVs) are detected in a single assay, including copy number variants, balanced and unbalanced translocations, inversions, insertions, and aneuploidies. Somatic SVs are enriched by filtering against an OGM control SV database. OGM data analysis is performed using a graphical user interface tool for variant visualization, interpretation, and curation. Both genome-wide and hematological malignancy subtype specific interpretation is performed, and SVs are classified according to standard medical guidelines by board certified laboratory directors.
Optical genome mapping is a technique using a streamlined workflow capable of detecting all classes of structural variations in the human genome, including deletions, duplications, insertions, translocations, inversions, and repeat contractions and expansions. The OGM technique relies on the imaging of labeled (direct label and stain, DLS) ultra-high molecular weight DNA molecules during flow within nanochannels in the Saphyr system. The DLS method, where fluorescent labels are attached to a 6 bp sequence motif, provides an average genome-wide resolution of approximately of 5 kbp. The labeled DNA is linearized in nanochannel arrays in the Saphyr instrument and imaged for the generation of digital barcodes for mapping the SVs in the human genome. Learn more about OGM data services.
Currently, we can perform OGM-Dx HemeOne on peripheral blood and bone marrow aspirates.
OGM-Dx HemeOne is a laboratory developed test for the detection of structural variants of diagnostic and prognostic value in individuals with a new diagnosis, or an existing diagnosis of a hematological malignancy. OGM uses ultra-high molecular weight DNA extracted from blood or bone marrow samples to detect these SVs, including aneuploidies, large and small copy number variants, rearrangements, insertions, inversions, and translocations. Reports will include a whole genome analysis to assess for complex genomes (similar to karyotyping) as well as a targeted evaluation of disease specific SVs published in multiple guidelines for the following indications (as selected on the test requisition form): ALL, AML, B-Cell Lymphoma, CLL, CML, MDS, MM, MPS, PCN
