CPT® Code 81411

1. Indications

The molecular genetic testing represented by CPT® Code 81411 is indicated for patients who present with specific cardiovascular findings and skeletal manifestations. These indications include:

• Marfan Syndrome - A genetic disorder that affects connective tissue, leading to cardiovascular complications such as aortic dilation.
• Loeys Dietz Syndrome - A condition characterized by aortic aneurysms and other cardiovascular issues, associated with mutations in the TGFBR1 and TGFBR2 genes.
• Ehlers-Danlos Syndrome Type IV - A type of Ehlers-Danlos syndrome that can lead to vascular complications, particularly involving the COL3A1 gene.
• Arterial Tortuosity Syndrome - A syndrome associated with mutations in the SLC2A10 gene, leading to vascular abnormalities.
• Familial Thoracic Aortic Aneurysm - Conditions linked to mutations in genes such as ACTA2 and MYH11, which predispose individuals to thoracic aortic aneurysms.

2. Procedure

The procedure for CPT® Code 81411 involves several critical steps to ensure accurate genetic testing for aortic dysfunction or dilation syndromes. The steps include:

• Step 1: Blood Sample Collection - A blood sample is obtained from the patient through a venipuncture, which is a standard procedure for drawing blood. This sample serves as the source of DNA for subsequent genetic analysis.
• Step 2: DNA Isolation - The DNA is isolated from the collected blood sample, ensuring that the genetic material is suitable for testing. This step is crucial for the integrity of the analysis.
• Step 3: Next-Generation Sequencing - The isolated DNA undergoes next-generation sequencing, a high-throughput method that allows for the simultaneous analysis of multiple genes associated with aortic conditions. This technology enables the detection of various mutations that may be present.
• Step 4: Copy Number Variant Analysis - In addition to sequencing, a copy number variant analysis is performed to identify any duplications or deletions in the genetic material. This analysis is essential for detecting structural variations that could impact gene function.
• Step 5: Confirmation Testing - The results from the initial analyses are confirmed using Sanger sequencing or droplet digital polymerase chain reaction. This step ensures the accuracy of the findings and provides reliable results for clinical decision-making.
• Step 6: Comparative Genomic Hybridization (CGH) Array - A duplication/deletion analysis panel is performed using a CGH array, which utilizes overlapping probes to cover the entire genomic regions of interest. This method is capable of identifying specific deletions or duplications in the genes TGFBR1, TGFBR2, MYH11, and COL3A1.

3. Post-Procedure

After the completion of the genetic testing procedure, patients may expect to receive results that can help establish a medical diagnosis related to aortic dysfunction or dilation syndromes. The results can also provide valuable information for family members regarding potential carrier status for the identified genetic conditions. It is important for healthcare providers to discuss the findings with patients, including any implications for treatment, monitoring, and family planning. Follow-up care may involve additional consultations with genetic counselors or specialists in cardiovascular genetics to address any concerns and to plan for ongoing management of the identified conditions.