CPT® Code 81195

1. Indications

The optical genome mapping (OGM) procedure is indicated for the analysis of hematologic malignancies, which include various types of blood cancers such as leukemia and lymphoma. This technique is particularly useful for detecting structural variants and copy number variants that may contribute to the pathogenesis of these malignancies.

• Hematologic Malignancies Analysis of blood cancers, including leukemia and lymphoma, to identify genetic alterations.

2. Procedure

The optical genome mapping procedure involves several critical steps to ensure accurate analysis of the genomic structure.

• Sample Preparation The process begins with the collection of a blood or bone marrow sample, which is essential for isolating the DNA. A specialized prep kit is utilized to extract ultra-high molecular weight DNA from the sample, ensuring that the integrity of the genetic material is maintained for subsequent analysis.
• Labeling and Staining Once the DNA is isolated, specific sequences within the DNA are labeled and stained. This step is crucial as it allows for the visualization of the DNA during the imaging process, enabling the identification of structural and copy number variants.
• Chip Processing The labeled DNA sample is then transferred onto a specialized processing chip designed for optical genome mapping. This chip plays a vital role in the scanning process, where the loaded DNA molecules are linearized to prepare them for imaging.
• Imaging During the imaging phase, the DNA molecules undergo repeated cycles of imaging, which captures detailed information about the genomic structure. This step is essential for revealing any underlying variations present in the DNA.
• Data Processing The images obtained from the scanning are processed using advanced algorithms that convert them into digital maps. These maps are aligned with a reference genome, allowing for the construction of a consensus genome map that highlights all identified structural variants.
• Data Interpretation Finally, additional analysis software is employed to interpret the data generated from the mapping process. This software provides comprehensive reports that detail the findings, offering valuable insights into the genetic alterations associated with hematologic malignancies.

3. Post-Procedure

After the optical genome mapping procedure, the results are compiled and analyzed to provide a detailed report on the structural and copy number variants identified in the sample. The interpretation of these results is crucial for understanding the genetic basis of the hematologic malignancy being studied. Follow-up consultations may be necessary to discuss the findings and potential implications for treatment or further testing. Additionally, the continuous workflow of the OGM process allows for efficient handling of multiple samples, ensuring timely results for clinical decision-making.