• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) • Marfan Syndrome • Loeys-Dietz Syndrome (LDS) • Ehlers-Danlos Syndrome • Shprintzen-Goldberg Syndrome • Connective Tissue Disorders • 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
  • CPT Code(s):
    Contact KDL for billing information
Background:

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.
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated. 

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

Methodology:

Specimen Requirements:

Test Performed (Days):

Turn Around Time:

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References:

  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

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