Highmark Commercial Medical Policy - Pennsylvania

Medical Policy: L-232-001
Topic: Hereditary Connective Tissue Disorder Testing
Section: Laboratory
Effective Date: July 1, 2018
Issue Date: July 2, 2018
Last Reviewed: March 2018

Hereditary connective tissue disorders (HCTDs) are a group of disorders that affect the connective tissues that support the skin, bones, joints, heart, blood vessels, eyes, and other organs.

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.

Hereditary Connective Tissue Disorder single gene tests may be considered medically necessary when the following criteria are met:

Procedure Codes
81400, 81401, 81402, 81403, 81404, 81405, 81406, 81407, 81408, 81479



Hereditary Connective Tissue Disorder multi-gene panels may be considered medically necessary when the following criteria are met:

Procedure Codes
81410, 81411



Hereditary Connective Tissue Disorder testing is considered non-covered for the following indications:

Procedure Codes
81400, 81401, 81402, 81403, 81404, 81405, 81406, 81407, 81408, 81410, 81411, 81479

Professional Statements and Societal Positions

  • No current U.S guidelines address the use of multi-gene panels in HCTDs.
  • An expert-authored review (updated in 2016) states the following regarding hEDS:

“If a patient’s personal or family history is suggestive of one of the other types of EDS or another hereditary disorder of connective tissue or arterial fragility syndrome, analysis of an associated gene or multi-gene connective tissue disease panel may be appropriate. Failure to identify a pathogenic variant with such multiple gene testing reduces the likelihood of an arterial fragility syndrome, but does not completely rule it out, especially in the setting of a positive personal or family history of arterial fragility. Negative testing for an arterial fragility syndrome also does not confirm a diagnosis of EDS, hypermobility type. Therefore, such testing is not recommended in the absence of specific suggestive signs, symptoms, or family history.”

  • According to the International Consortium on the Ehlers-Danlos Syndromes (2017):
    • “In view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between many of these subtypes, but also with other HCTDs, the definite diagnosis relies for all subtypes, except hEDS, on molecular confirmation with identification of (a) causative variant(s) in the respective gene.”
    • “Molecular diagnostic strategies should rely on NGS technologies, which offer the potential for parallel sequencing of multiple genes. Targeted resequencing of a panel of genes…is a time- and cost-effective approach for the molecular diagnosis of the genetically heterogeneous EDS. When no mutation (or in case of an autosomal recessive condition only one mutation) is identified, this approach should be complemented with a copy number variant (CNV) detection strategy to identify large deletions or duplications, for example Multiplex Ligation-dependent Probe Amplification (MLPA), qPCR, or targeted array analysis.”
    • “The diagnosis of hEDS remains clinical as there is yet no reliable or appreciable genetic etiology to test for in the vast majority of patients.”


Place of Service: Outpatient

Experimental/Investigational (E/I) services are not covered regardless of place of service.

Hereditary connective tissue disorder 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.

A network provider cannot bill the member for the non-covered service.

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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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The Claims Administrator/Insurer complies with applicable Federal civil rights laws and does not discriminate on the basis of race, color, national origin, age, disability, or sex. The Claims Administrator/Insurer does not exclude people or treat them differently because of race, color, national origin, age, disability, or sex. The Claims Administrator/ Insurer: If you need these services, contact the Civil Rights Coordinator.

If you believe that the Claims Administrator/Insurer has failed to provide these services or discriminated in another way on the basis of race, color, national origin, age, disability, or sex, you can file a grievance with: Civil Rights Coordinator, P.O. Box 22492, Pittsburgh, PA 15222, Phone: 1-866-286-8295, TTY: 711, Fax: 412-544-2475, email: CivilRightsCoordinator@highmarkhealth.org. You can file a grievance in person or by mail, fax, or email. If you need help filing a grievance, the Civil Rights Coordinator is available to help you.

You can also file a civil rights complaint with the U.S. Department of Health and Human Services, Office for Civil Rights electronically through the Office for Civil Rights Complaint Portal, available at https://ocrportal.hhs.gov/ocr/portal/lobby.jsf, or by mail or phone at:

U.S. Department of Health and Human Services
200 Independence Avenue, SW
Room 509F, HHH Building
Washington, D.C. 20201
1-800-368-1019, 800-537-7697 (TDD)

Complaint forms are available at http://www.hhs.gov/ocr/office/file/index.html.

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