CPT® Code 81229

1. Indications

The cytogenomic analysis described by CPT® Code 81229 is indicated for the identification of constitutional chromosomal abnormalities. This testing is particularly relevant in the following scenarios:

• Cancer Genomics Molecular genetic testing is performed to identify specific gene mutations associated with various cancers, aiding in diagnosis and treatment planning.
• Copy Number Alterations The procedure is utilized to detect copy number alterations (CNA) that are prevalent in cancer cells, which can provide insights into tumor behavior and progression.
• Genome-Wide Association Studies This analysis may also be applied in research settings to study matched cohorts with or without disease, facilitating the exploration of genetic variations and their associations with health outcomes.

2. Procedure

The procedure for CPT® Code 81229 involves several critical steps to ensure accurate cytogenomic analysis. Each step is designed to meticulously interrogate genomic regions for abnormalities.

• Step 1: Sample Collection The first step involves the collection of a biological sample, typically blood or tissue, from the patient. This sample serves as the source of genomic DNA for analysis.
• Step 2: DNA Extraction Following sample collection, DNA is extracted from the cells within the sample. This process is crucial as it isolates the genetic material needed for subsequent analysis.
• Step 3: Comparative Genomic Hybridization (CGH) Microarray Preparation The extracted DNA is then labeled and hybridized to a CGH microarray. This microarray contains probes that correspond to various genomic regions, allowing for the detection of CNAs and SNP variants.
• Step 4: Data Analysis After hybridization, the microarray is scanned, and the data is analyzed using specialized software. This analysis identifies regions of the genome that exhibit copy number changes or SNP variations, providing insights into potential chromosomal abnormalities.
• Step 5: Interpretation of Results The final step involves the interpretation of the data by a qualified geneticist or molecular pathologist. They will assess the findings in the context of the patient's clinical history and other diagnostic information to provide a comprehensive report.

3. Post-Procedure

Post-procedure care following the cytogenomic analysis involves monitoring the patient for any immediate reactions to the sample collection. The results of the analysis are typically communicated to the healthcare provider within a specified timeframe, allowing for timely clinical decision-making. Patients may require follow-up consultations to discuss the findings, implications for treatment, and any further testing that may be necessary based on the results. Additionally, genetic counseling may be recommended to help patients and their families understand the significance of the findings and any potential hereditary implications.