Highmark Commercial Medical Policy - Pennsylvania
Medical Policy: L-133-007
Topic: Thoracic Aortic Aneurysms and Dissections (TAAD) Panel Testing
Section: Laboratory
Effective Date: July 1, 2018
Issue Date: July 2, 2018
Last Reviewed: March 2018

The major cardiac problems seen in individuals with TAAD include dilatation of the ascending thoracic aorta at the level of the sinuses of Valsalva or ascending aorta or both and dissections of the thoracic aorta involving either the ascending (Stanford type A dissections) or descending aorta (Stanford type B).  In some cases, vascular manifestations may be the only manifestation.

Specific genetic conditions that have TAAD as a clinical manifestation:

  • Marfan syndrome (MFS)
  • Loeys-Dietz syndrome (LDS)
  • Ehlers-Danlos syndrome, Type IV (EDS type IV)
  • Familial TAAD (TGFBR2, TGFBR1, MYH11, ACTA2, MYLK, and SMAD3).

This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.

Policy Position Coverage is subject to the specific terms of the member’s benefit plan.

Known Familial Mutation(s) for TAAD

Genetic testing for Known Familial Mutation(s) for TAAD may be considered medically necessary when the following criteria are met:

*NOTE: Since symptoms may occur in childhood, testing of children who are at-risk for a pathogenic mutation may be considered. 

Procedure Codes
81403


TAAD Genetic Testing Sequencing Panel

Note: Gene panels that are specific to TAAD that include the following genes will be eligible for coverage according to the criteria outlined in this policy: FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK. This sequencing panel will only be considered for coverage when billed under the appropriate panel CPT code: 81410. 

Genetic testing for TAAD Sequencing Panel may be considered medically necessary when the following criteria are met:

Procedure Codes
81410


TAAD Genetic Testing Duplication/Deletion Panel

Note: This duplication/deletion panel will only be considered for coverage when billed under the appropriate panel CPT code: 81411.

Genetic testing for TAAD Deletion/Duplication Panel may be considered medically necessary when the following criteria are met:

Procedure Codes
81411


Refer to medical policy L-132 Marfan Syndrome Genetic Testing for additional information.

Refer to medical policy L-232 Hereditary Connective Tissue Disorder Testing for additional information.


Professional Statements and Societal Positions

The European Society of Cardiology (ESC, 2014) stated the following:

  • Once a familial form of TAAD is highly suspected, it is recommended to refer the patient to a geneticist for family investigation and molecular testing. (Class I, Level C)

The Canadian Cardiovascular Society (2014) stated the following:

  • We recommend genetic screening for TAD-associated genes in non-BAV aortopathy index cases to clarify the origin of disease and improve clinical and genetic counselling (Strong recommendation, moderate quality evidence).
  • We recommend complete aortic imaging at initial diagnosis and at 6 months for patients with LDS or a confirmed genetic aortopathy (e.g., TGFBR1/2, TGFB, SMAD3, ACTA2, or MYH11) to establish if enlargement is occurring (Strong Recommendation, Moderate-Quality Evidence).
  • We recommend that genetic counselling and testing be offered to first degree relatives of patients in whom a causal mutation of a TAD associated gene is identified. We recommend that aortic imaging be offered only to mutation carriers (Strong Recommendation, Low-Quality Evidence).

Joint evidence-based guidelines from ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM (2010) for the diagnosis and management of thoracic aortic disease.

  • Predictive genetic testing for at-risk relatives is addressed in the following guidelines statement:
    • If the mutant gene (FBN1, TGFBR1, TGFBR2, COL3A1, ACTA2, MYH11) associated with aortic aneurysm and/or dissection is identified in a patient, first-degree relatives should undergo counseling and testing. Then, only the relatives with the genetic mutation should undergo aortic imaging. [Evidence level I: Evidence from only expert opinion, case studies, or standard if care. Recommendation classification C: Recommendation that procedure or treatment is useful/effective.]
  • ACTA2 sequencing is addressed in the following guidelines statement:
    • Sequencing of the ACTA2 gene is reasonable in patients with a family history of thoracic aortic aneurysms and/or dissections to determine if ACTA2 mutations are responsible for the inherited predisposition (Pannu et al., 2005; Guo et al., 2007; Zhu et al., 2006; Loeys et al., 2006; Stheneur et al., 2008; Guo et al., 2009). [Evidence level IIa: Only diverging expert opinion, case studies, or standard of care. Recommendation classification B: “Recommendation in favor of treatment or procedure being useful/effective.]
  • Additional genetic testing is addressed in the following guidelines statement:
    • Sequencing of other genes known to cause familial thoracic aortic aneurysms and/or dissection (TGFBR1, TGFBR2, MYH11) may be considered in patients with a family history and clinical features associated with mutations in these genes (Pannu et al., 2005; Guo et al., 2007; Zhu et al., 2006; Loeys et al., 2006; Stheneur et al., 2008; Guo et al., 2009). [Evidence level IIb: Greater conflicting evidence from single randomized trial or nonrandomized studies. Recommendation classification B: “Recommendation's usefulness/efficacy less well established.]
    • Patients with Loeys-Dietz syndrome or a confirmed genetic mutation known to predispose to aortic aneurysms and aortic dissections (TGFBR1, TGFBR2, FBN1, ACTA2, or MYH11) should undergo complete aortic imaging at initial diagnosis and 6 months thereafter to establish if enlargement is occurring. (Level of Evidence: C).

Place of Service: Outpatient

TAAD panel testing is typically an outpatient procedure which is only eligible for coverage as an inpatient procedure in special circumstances, including, but not limited to, the presence of a co-morbid condition that would require monitoring in a more controlled environment such as the inpatient setting.


The policy position applies to all commercial lines of business


Denial Statements

Services that do not meet the criteria of this policy will not be considered medically necessary. A network provider cannot bill the member for the denied service unless: (a) the provider has given advance written notice, informing the member that the service may be deemed not medically necessary; (b) the member is provided with an estimate of the cost; and (c) the member agrees in writing to assume financial responsibility in advance of receiving the service. The signed agreement must be maintained in the provider’s records.

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Medical policies do not constitute medical advice, nor are they intended to govern the practice of medicine. They are intended to reflect Highmark's reimbursement and coverage guidelines. Coverage for services may vary for individual members, based on the terms of the benefit contract.

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