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Official Description

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, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK

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Common Language Description

The CPT® Code 81410 pertains to a genomic sequence analysis panel specifically designed to assess aortic dysfunction or dilation associated with various genetic syndromes. This panel is crucial for identifying mutations in at least nine specific genes that are linked to conditions such as Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome type IV, and arterial tortuosity syndrome. The genes included in this analysis are FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK. The molecular genetic testing performed under this code aims to establish a medical diagnosis in patients who exhibit cardiovascular symptoms and skeletal manifestations, which may include craniofacial anomalies. Additionally, this testing can help identify carriers of these genetic conditions within families, thereby facilitating informed medical management and genetic counseling. The process involves obtaining a blood sample through a venipuncture, which is separately reportable, and analyzing the sample for gene mutations using advanced techniques such as next-generation sequencing and copy number variant analysis. Confirmation of findings may be achieved through Sanger sequencing or droplet digital polymerase chain reaction. Furthermore, a duplication/deletion analysis panel for specific genes is conducted on isolated DNA from whole blood, utilizing a comparative genomic hybridization (CGH) array to detect precise deletions or duplications across the genomic regions of interest.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The CPT® Code 81410 is indicated for use in patients who present with symptoms or conditions that suggest a risk of aortic dysfunction or dilation. These indications include:

  • Marfan Syndrome - A genetic disorder that affects connective tissue, leading to cardiovascular complications, including aortic dilation.
  • Loeys-Dietz Syndrome - A connective tissue disorder characterized by aortic aneurysms and other cardiovascular issues, often accompanied by skeletal abnormalities.
  • Ehlers-Danlos Syndrome Type IV - A form of Ehlers-Danlos syndrome that primarily affects blood vessels and can lead to life-threatening vascular complications.
  • Arterial Tortuosity Syndrome - A rare genetic condition that results in tortuous arteries and can lead to aortic dilation and other cardiovascular problems.

2. Procedure

The procedure associated with CPT® Code 81410 involves several critical steps to ensure accurate genomic analysis. First, a blood sample is obtained from the patient through a venipuncture, which is a separate procedure that must be reported independently. This blood sample serves as the source of DNA for the subsequent analysis. Next, the genomic sequence analysis panel is performed, which includes the sequencing of at least nine specific genes known to be associated with aortic dysfunction or dilation. These genes are FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK. The analysis utilizes next-generation sequencing technology, which allows for the rapid and comprehensive examination of these genes for mutations. Additionally, a copy number variant analysis is conducted to identify any duplications or deletions within the genomic regions of interest. To confirm the findings, Sanger sequencing or droplet digital polymerase chain reaction may be employed. Furthermore, a duplication/deletion analysis panel specifically for TGFBR1, TGFBR2, MYH11, and COL3A1 is performed on the isolated DNA using a comparative genomic hybridization (CGH) array. This array is designed to detect specific deletions or duplications by utilizing overlapping probes that cover the entire genomic regions of the targeted genes.

3. Post-Procedure

After the completion of the genomic sequence analysis, the results are typically reviewed and interpreted by a qualified healthcare professional. The findings can provide critical information for establishing a medical diagnosis and guiding further management of the patient’s condition. Patients may require follow-up consultations to discuss the implications of the test results, including potential treatment options and genetic counseling for family members. It is essential to monitor patients for any cardiovascular complications that may arise as a result of the identified genetic conditions. Additionally, healthcare providers may recommend regular imaging studies to assess the aorta and other affected structures, ensuring timely intervention if necessary.

Short Descr AORTIC DYSFUNCTION/DILATION
Medium Descr AORTIC DYSFUNCTION/DILATION GENOMIC SEQ ANALYSIS
Long Descr 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, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK
Status Code Statutory Exclusion (from MPFS, may be paid under other methodologies)
Global Days XXX - Global Concept Does Not Apply
PC/TC Indicator (26, TC) 9 - Not Applicable
Multiple Procedures (51) 9 - Concept does not apply.
Bilateral Surgery (50) 9 - Concept does not apply.
Physician Supervisions 09 - Concept does not apply.
Assistant Surgeon (80, 82) 9 - Concept does not apply.
Co-Surgeons (62) 9 - Concept does not apply.
Team Surgery (66) 9 - Concept does not apply.
Diagnostic Imaging Family 99 - Concept Does Not Apply
CLIA Waived (QW) No
APC Status Indicator Service Paid under Fee Schedule or Payment System other than OPPS
Type of Service (TOS) 5 - Diagnostic Laboratory
Berenson-Eggers TOS (BETOS) T1H - Lab tests - other (non-Medicare fee schedule)
MUE 1
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
90 Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number.
GA Waiver of liability statement issued as required by payer policy, individual case
GW Service not related to the hospice patient's terminal condition
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2015-01-01 Added Added
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