CPT® Code 81439

1. Indications

The genomic sequence analysis panel represented by CPT® Code 81439 is indicated for the evaluation of hereditary cardiomyopathies. The specific conditions and symptoms for which this procedure is performed include:

• Hypertrophic Cardiomyopathy (HCM) - A condition characterized by left ventricular hypertrophy in the absence of predisposing conditions, leading to symptoms such as syncope, shortness of breath, palpitations, and chest pain.
• Dilated Cardiomyopathy (DCM) - This condition results in left ventricular enlargement and decreased myocardial contractile force, with symptoms including heart failure, arrhythmias, and thromboembolic disease.
• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) - A condition that causes abnormal cardiac structure and rhythm, where myocardial tissue is replaced by fibrofatty tissue, leading to symptoms such as syncope, palpitations, and sudden cardiac arrest.

2. Procedure

The procedure for conducting the genomic sequence analysis panel involves several critical steps to ensure accurate identification of genetic mutations associated with hereditary cardiomyopathies. The steps are as follows:

• Step 1: Blood Sample Collection - A blood sample is obtained from the patient through a procedure known as venipuncture. This step is essential as it provides the necessary biological material for subsequent analysis.
• Step 2: DNA Extraction and Fragmentation - Once the blood sample is collected, DNA is extracted from the whole blood. The extracted DNA is then fragmented into smaller pieces to facilitate the analysis of specific gene segments.
• Step 3: Targeted Gene Enrichment - The fragmented DNA undergoes a process called capture hybridization, where targeted gene segments related to cardiomyopathies are enriched. This step ensures that the analysis focuses on the relevant genes associated with the conditions being investigated.
• Step 4: Next-Generation Sequencing - The enriched gene segments are subjected to massively parallel next-generation sequencing. This advanced technology allows for the detection of gene mutations by comparing the sequenced segments and identifying any similarities or differences.
• Step 5: Mutation Identification - The sequencing results are analyzed to identify genetic markers, including point mutations or single nucleotide polymorphisms, that may be associated with hereditary cardiomyopathies.

3. Post-Procedure

After the genomic sequence analysis is completed, the results are interpreted to confirm a diagnosis of hereditary cardiomyopathy. The findings can also be used to identify at-risk family members and silent carriers of genetic mutations. Additionally, the results may guide treatment planning and genetic counseling for affected individuals and their families. It is important for healthcare providers to discuss the implications of the test results with patients, including potential management strategies and the importance of monitoring for symptoms associated with these cardiomyopathies.