Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2, COL3A1,
CPT4 code
Name of the Procedure:
Genomic Sequence Analysis Panel for Aortic Dysfunction or Dilation
Summary
This procedure involves analyzing a set of genes associated with aortic dysfunction or dilation conditions by sequencing at least nine specific genes. It is commonly utilized for genetic conditions such as Marfan Syndrome, Loeys Dietz Syndrome, Ehlers-Danlos Syndrome Type IV, and Arterial Tortuosity Syndrome.
Purpose
This test aims to identify genetic mutations that contribute to abnormalities in the aorta, which can lead to serious cardiovascular issues. The outcomes help in diagnosing the condition, personalizing treatment plans, and providing information for family genetic counseling.
Indications
- Symptoms of aortic enlargement or aneurysm.
- Family history of genetic aortic diseases.
- Diagnosis or suspicion of Marfan Syndrome, Loeys Dietz Syndrome, Ehlers-Danlos Syndrome Type IV, or Arterial Tortuosity Syndrome.
- Genetic counseling and risk assessment.
Preparation
- No specific pre-procedure instructions; regular diet and activities can be maintained.
- Collection of a blood sample or saliva for DNA extraction.
- Pre-test genetic counseling may be provided to explain the process and implications.
Procedure Description
- Sample Collection: A blood sample or saliva is collected from the patient.
- DNA Extraction: The DNA is extracted from the collected sample.
- Sequencing: Advanced technologies, such as next-generation sequencing, are used to analyze at least nine genes, including FBN1, TGFBR1, TGFBR2, and COL3A1.
- Data Analysis: Bioinformatics tools help in identifying genetic variants that may lead to aortic dysfunction or dilation.
- Interpretation: Geneticists interpret the results and prepare a detailed report.
Duration
The entire process, from sample collection to the availability of results, typically takes several weeks.
Setting
The procedure is usually performed in outpatient settings, including hospitals, specialized clinics, or genetic testing laboratories.
Personnel
- Phlebotomists or medical assistants for sample collection.
- Medical geneticists and laboratory technicians for sequencing and analysis.
- Genetic counselors to discuss the results with patients.
Risks and Complications
- There are minimal risks associated with the blood draw, such as bruising or infection.
- Some results might be of uncertain significance and can cause anxiety or require further testing.
Benefits
- Accurate diagnosis of genetic conditions affecting the aorta.
- Personalized management and treatment plans.
- Informed genetic counseling and risk assessment for family members.
- Early intervention to prevent severe complications.
Recovery
- No recovery time required; patients can resume normal activities immediately after sample collection.
- Follow-up genetic counseling session to discuss results and next steps.
Alternatives
- Clinical evaluation and imaging studies (e.g., echocardiogram, MRI) for structural assessment.
- Single-gene testing if there is a specific gene of interest.
- These alternatives may not provide comprehensive genetic information compared to the described panel.
Patient Experience
- Patients may experience mild discomfort from the blood draw.
- Waiting for results may cause anxiety, which can be alleviated through genetic counseling.
- Overall, the procedure is non-invasive, and comfort measures are taken to ensure a smooth process.