CPT® Code 81277

1. Indications

The cytogenomic microarray analysis (CMA) is indicated for the evaluation of hematological neoplasms, particularly in cases where there is a suspicion of chromosomal abnormalities. The following conditions and symptoms may warrant the use of this procedure:

• B-cell acute lymphoblastic leukemia - This test is crucial for diagnosing and characterizing genetic changes associated with this type of leukemia.
• Other hematological malignancies - CMA can be utilized for various blood cancers to identify chromosomal abnormalities that may influence treatment and prognosis.
• Unexplained cytopenias - In cases where patients present with low blood cell counts without a clear diagnosis, CMA can help uncover underlying genetic issues.
• Relapsed or refractory disease - For patients whose cancer has returned or is resistant to treatment, CMA can provide insights into new genetic alterations that may guide further therapeutic options.

2. Procedure

The procedure for cytogenomic microarray analysis involves several critical steps to ensure accurate results. The following outlines the detailed procedural steps:

• Step 1: Sample Collection - DNA is extracted from the patient's peripheral blood or bone marrow. This sample serves as the basis for the analysis, providing the necessary genetic material for examination.
• Step 2: DNA Labeling - The extracted DNA is labeled with fluorescent dyes. This labeling is essential for the subsequent hybridization process, as it allows for the detection of the DNA on the microarray.
• Step 3: Hybridization - The labeled DNA is then hybridized to a microarray that contains probes for specific genomic regions. This step allows the DNA to bind to the probes, which are designed to detect particular sequences associated with chromosomal abnormalities.
• Step 4: Scanning - After hybridization, the microarray is scanned to measure the intensity of the fluorescent signals emitted from the bound DNA. This data is crucial for determining the presence of copy number changes and loss of heterozygosity.
• Step 5: Data Analysis - The intensity signals are compared to a reference dataset to identify any deviations that indicate genetic abnormalities. This analysis helps in quantifying the number of copy changes and pinpointing regions with loss of heterozygosity.
• Step 6: Reporting - A comprehensive report is generated, summarizing the findings of the analysis. This report is provided to the physician, offering critical insights for diagnosis, prognosis, and treatment planning.

3. Post-Procedure

After the cytogenomic microarray analysis is completed, the physician will review the report generated from the data analysis. The results may indicate specific genetic alterations that could influence the patient's treatment plan and prognosis. It is essential for the healthcare team to discuss the findings with the patient, including any implications for further testing or therapeutic options. Additionally, follow-up appointments may be necessary to monitor the patient's condition and response to treatment based on the insights gained from the CMA. There are typically no specific post-procedure care requirements for the patient, as the analysis is performed on a laboratory sample rather than requiring any invasive procedures.