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Thoracic Aortic Aneurysm and Dissection (TAAD) and Related Disorders

TAAD is a genetically heterogeneous disorder, which primarily involves problems with the aorta, specifically the thoracic aorta. The major manifestations of TAAD include aortic dilatation, aortic aneurysms, aortic dissection, and aneurysms of the other arteries (i.e. abdominal, cerebral). In addition to cardiac defects, TAAD can manifest with other features including: congenital heart abnormalities, inguinal hernia, […]

TAAD is a genetically heterogeneous disorder, which primarily involves problems with the aorta, specifically the thoracic aorta. The major manifestations of TAAD include aortic dilatation, aortic aneurysms, aortic dissection, and aneurysms of the other arteries (i.e. abdominal, cerebral). In addition to cardiac defects, TAAD can manifest with other features including: congenital heart abnormalities, inguinal hernia, scoliosis, a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries), or ocular abnormalities (i.e. iris flocculi). Generally the first feature to present is aortic dilatation, where the aorta is stretched and weakened over time. This dilatation increases the susceptibility to develop aortic aneurysms and aortic dissections. Aortic dissection occurs when a tear in the aorta wall results in bleeding into and along the wall of the aorta. These dissections primarily originate in the ascending aorta (Stanford type A), but also can occur in the descending thoracic aorta (Stanford type B). TAAD results in an increased risk for aortic rupture causing severe internal bleeding. Familial TAAD is expected to cause about 20% of all cases of thoracic aortic aneurysms and dissections6. This disorder can occur as nonsyndromic TAAD or in conjunction with other genetic syndromes including Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danolos, and other related syndromes.

Tests Available

FBN1 Gene Sequencing & Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
FBN1
Clinical Utility:
  • Confirmation of clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with TAAD
  • Differentiation between familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and phenotypically related disorders
Lab Method:
Capillary Sequencing, Exon Array CGH

ORDERING

Test Code:
918
Turnaround Time:
4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81408x1, 81479x1
New York Approved:
No
ABN Required:
Yes
Billing Information:
View Cardiology Billing Policy
ICD Codes:
  • 701.3: Striae atrophicae, Atrophic spots of skin, Atrophoderma maculatum, Atrophy blanche (of Milian), Degenerative colloid atrophy, Senile degenerative atrophy, Striae distensae
  • 759.82: Marfan syndrome
  • 379.32: Subluxation of lens
  • 737.43: Scoliosis
  • 441.00: Unspecified site
  • 441.9: Aortic aneurysm of unspecified site without mention of rupture Aneurysm Dilatation of aorta, Hyaline necrosis of aorta
  • 441.5: Aortic aneurysm of unspecified site, ruptured Rupture of aorta NOS
  • 754.81: Pectus excavatum Congenital funnel chest
  • 512.8: Other spontaneous pneumothorax Pneumothorax
  • 759.7: Multiple congenital anomalies, so described Congenital: anomaly, multiple NOS deformity, multiple NOS
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