• Test Code:
  • Department:
  • Test Synonyms:
    Thoracic Aortic Aneurysms and Aortic Dissections (TAAD)Marfan SyndromeLoeys-Dietz Syndrome (LDS)Ehlers-Danlos SyndromeShprintzen-Goldberg SyndromeConnective Tissue DisordersACTA2ADAMTS2B3GALT6B4GALT7CBSCHST14COL1A1COL1A2COL3A1COL5A1COL5A2FBN1 FBN2FKBP14FLNAMED12MYH11MYLKNOTCH1PLOD1PRDM5SKISLC2A10SLC39A13SMAD3TGFB2TGFB3TGFBR1TGFBR2TNXBZNF469
  • CPT Code(s):

The inherited aneurysms and aortopathies comprise a group of related disorders of aortic aneurysms and/or dissection including: Thoracic Aortic Aneurysms and Aortic Dissections (TAAD), Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome. The characteristic feature of TAAD is dilation and/or dissections of the thoracic aorta. Marfan syndrome is a connective tissue disorder that often includes ocular and skeletal involvement in addition to dilation and dissection of the aorta. Loeys-Dietz syndrome is characterized by skeletal abnormalities with aneurysms and/or dissections of the cerebral, thoracic, and abdominal arteries. Ehlers-Danlos syndrome is a connective tissue disorder defined by smooth, hyperelastic skin, abnormal wound healing and bruising, joint hypermobility, and risk for arterial rupture. This next-generation sequencing test is designed to detect mutations in the coding region of 31 genes associated with Familial Aneurysm and Aortopathy.

Reasons for Referral:

  • Aortic or arterial aneurysms and/or dissections.
  • Clinical presentation consistent with Thoracic Aortic Aneurysms and Aortic Dissections , Marfan syndrome, Loeys-Dietz Syndrome, or Ehlers-Danlos Syndrome.
  • Positive family history for aneurysms and/or dissections (targeted testing is available if familial mutation is known).
  • Carrier testing.


Next generation sequencing will analyze the exons or coding regions of 31 Familial Aneurysm and Aortopathy genes using Illumina NextSeq 500 technology and preparing samples using hybridization probes to enrich exonic regions.    Promoter, intronic, etc. regions are not assessed here but may contain variants that impact gene function.

Familial Aneurysm and Aortopathy (31 genes): ACTA2, ADAMTS2, B3GALT6, B4GALT7, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FKBP14, FLNA, MED12, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, SKI, SLC2A10, SLC39A13, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

Specimen Requirements:

Blood:  EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

Saliva: 2 ORAgene™ Saliva Collection Kits (OGR-500) used according to manufacturer instructions.  Please contact KDL Client Services for a Saliva Collection Kit for patients that cannot provide a blood sample.

Assisted Saliva: 4 ORAgene™ Assisted Saliva Collection Kits (OGR-575) used according to manufacturer instructions.  Please contact KDL Client Services for an Assisted Saliva Collection Kit for patients that cannot provide a blood sample.

Skin Fibroblast: Punch Biopsy (Cell cultures will be prepared at KDL and used for testing), or 2 T-25 confluent flasks

 5-10µg at a minimum of 60-100ng/µL (DNA must be extracted in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or CMS)

For routine testing of blood and saliva (or DNA extracted from them), KDL does NOT accept samples from patients within two (2) weeks of a packed cell/platelet transfusion or within four (4) weeks of a whole blood transfusion.  For extraordinary circumstances, where testing must be performed outside of the above windows, please contact our lab

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):


Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.


  1. GeneReviews:
    1. Milewicz et al., 2012, http://www.ncbi.nlm.nih.gov/books/NBK1120/
    2. Dietz, 2014, http://www.ncbi.nlm.nih.gov/books/NBK1335/
    3. Loeys et al., 2013, http://www.ncbi.nlm.nih.gov/books/NBK1133/
    4. Malfait et al., 2011, http://www.ncbi.nlm.nih.gov/books/NBK1244/
  2. Genetics Home Reference:
    1.  http://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection
    2. http://ghr.nlm.nih.gov/condition/marfan-syndrome
    3. http://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome
    4. http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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