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Genetic Testing for Thoracic Aortic Aneurysms/ Dissections and Connective Tissue Related Disorders 2.02.61
Effective date
Sep 17, 2026
Identified
Sep 22, 2026
Summary
This medical policy covers genetic testing for thoracic aortic aneurysms and dissections and related connective tissue disorders. COL3A1 testing for vascular Ehlers-Danlos syndrome may be considered medically necessary in symptomatic individuals with one listed major criterion or two listed minor criteria, FBN1 testing for Marfan syndrome and TGFBR1, TGFBR2, SMAD3, TGFB2 and TGFB3 testing for Loeys-Dietz syndrome have their own listed criteria, and broad multigene panels are considered not medically necessary. The current version is effective September 17, 2026, with an annual review, and the policy intent is unchanged.
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What to do
Action · 10 steps
01Already effective September 17, 2026: Genetic testing must be performed by a qualified laboratory certified under CLIA and offered in a setting with adequately trained health care professionals who can provide pre- and post-test counseling.
02Coverage applies only to members with a valid contract, and not to family members without a valid contract.
03Claims for genetic testing need documentation of a reasonable expectation, based on family history, pedigree analysis, risk factors or symptoms, that a genetically inherited condition exists.
04Documentation should show how test results will affect treatment or medical management.
05When there is family history or phenotype suggestive of a specific syndrome, document results of targeted testing for the associated mutation before any panel testing, or document why panel testing is medically necessary.
06Claims for COL3A1 testing for vascular Ehlers-Danlos syndrome need documentation of one listed major criterion (arterial rupture or dissection under age 40, spontaneous sigmoid colon perforation, uterine rupture during pregnancy, or a first-degree relative with vEDS) or two listed minor criteria, with the individual symptomatic.
07Claims for FBN1 testing for Marfan syndrome need documentation that the individual meets the listed criteria for the family history status: with no family history, ectopia lentis with any aortic dilation or significant aortic dissection or dilation (Z-score above 2); with a family history, ectopia lentis or significant aortic root enlargement; or, for either status, two listed minor criteria with the individual symptomatic.
08Claims for Loeys-Dietz syndrome gene testing need documentation of at least two of the listed findings.
09Claims for other EDS types, such as classic, EDS arthrochalasia or hypermobility type, are considered not medically necessary.
10Broad, multigene panels that are not limited to the focused testing listed for EDS vascular type, Marfan syndrome, Loeys-Dietz syndrome or thoracic aortic aneurysm disorder are considered not medically necessary.
Codes mentioned
8140181402814038140481405814068140781408814108141181479I71.0I71.9Q79.60Q79.63Q87.4Q87.43Q87.89
Original notice
Genetic Testing for Thoracic Aortic Aneurysms/ Dissections and Connective Tissue Related Disorders 2.02.61
excellusbcbs.com · Always check the source before changing claims.
Related changes
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