CPT® Code 81195

Cytogenomic (genome-wide) analysis, hematologic malignancy, structural variants and copy number variants, optical genome mapping (OGM)

Optical genome mapping (OGM) represents a cutting-edge genome-wide platform designed for the comprehensive detection of structural variants and copy number variants within a single assay. This advanced technique is particularly valuable in the analysis of hematologic malignancies, which are cancers that affect the blood, bone marrow, and lymphatic system. The process begins with the preparation of a blood or bone marrow sample, where ultra-high molecular weight DNA is isolated using a specialized prep kit. Following this, specific sequences within the DNA are labeled and stained to facilitate visualization. The prepared DNA sample is then transferred onto a specialized processing chip, which is integral to the scanning process. During scanning, the DNA molecules are linearized and imaged in repeated cycles, allowing for a detailed examination of the genomic structure and any variations present. The resulting images are processed through sophisticated algorithms that convert them into digital maps, aligning the molecules with a reference genome map to construct a consensus genome map that highlights all identified structural variants. Furthermore, additional analysis software is employed to interpret and report the findings, providing crucial insights into the genetic underpinnings of hematologic malignancies. The flexibility of the OGM process allows for single sample chips to be run individually or in batches of up to 12, enabling efficient workflow management as chips can be loaded and unloaded continuously without the need to wait for other samples to complete their processing.