Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); duplication/deletion analysis panel, must include analyses for TGFBR1, TGFBR2, MYH11, and COL3A1
CPT4 code
Name of the Procedure:
Aortic Dysfunction or Dilation Panel (Duplication/Deletion Analysis) for Marfan Syndrome, Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome Type IV, Arterial Tortuosity Syndrome
Summary
This procedure involves a genetic test that analyzes specific genes known to cause aortic dysfunction or dilation. It focuses on detecting duplications or deletions in the TGFBR1, TGFBR2, MYH11, and COL3A1 genes, which are associated with conditions like Marfan Syndrome and related disorders.
Purpose
The procedure identifies genetic variations responsible for conditions that lead to the weakening or enlargement of the aorta. The primary goal is to diagnose these conditions early, allowing for timely medical or surgical interventions, and to guide the treatment plan to prevent severe cardiovascular complications.
Indications
- Unexplained aortic enlargement or aneurysm
- Family history of aortic dissection or related syndromes
- Symptoms like extremely flexible joints or unusually elastic skin
- Diagnosis of Marfan Syndrome, Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome Type IV, or Arterial Tortuosity Syndrome
- Screening in individuals with a family history of these genetic conditions
Preparation
- No special preparation or fasting is typically required for the genetic test.
- It might be necessary to consult with a genetic counselor beforehand.
- Detailed family medical history may need to be provided.
Procedure Description
- Sample Collection: A blood sample is drawn from the patient.
- DNA Extraction: DNA is extracted from the blood sample in a laboratory.
- Analysis: The specific genes (TGFBR1, TGFBR2, MYH11, and COL3A1) are analyzed for duplications or deletions using advanced genetic tools.
- Interpretation: Results are interpreted by a geneticist, and a report is generated detailing any detected abnormalities.
Duration
The blood draw takes about 10 minutes, while genetic analysis can take several weeks to complete.
Setting
The blood draw can be performed in a hospital, outpatient clinic, or specialized lab. Genetic analysis is conducted in a specialized genetics laboratory.
Personnel
- Phlebotomist or nurse for blood draw
- Genetic counselor for pre- and post-test counseling
- Medical geneticists and laboratory technicians for DNA analysis
Risks and Complications
- Minor risks associated with blood draw, such as bruising or infection at the puncture site
- Emotional or psychological impact of genetic test results
- Rare risk of erroneous results due to technical errors (very low with advanced methods)
Benefits
- Accurate diagnosis of genetic conditions causing aortic dysfunction or dilation
- Early identification and management of potential cardiovascular complications
- Informed decision-making for patients and families
- Personalized treatment and preventive care plan
Recovery
- Minimal recovery is needed after the blood draw.
- Patients may need to follow up with a genetic counselor for interpretation of results and next steps.
- Regular monitoring and follow-up appointments with healthcare providers depending on the results.
Alternatives
- Conventional imaging tests (e.g., MRI, CT scan) to detect aortic abnormalities (do not provide genetic information)
- Single-gene testing if a specific condition is strongly suspected (less comprehensive)
- Family history and physical examination for preliminary assessment
Patient Experience
- Blood draw may cause slight discomfort or pain.
- Anxiety or concern while waiting for genetic test results.
- Emotional support and thorough genetic counseling are provided to manage patient experience and expectations.