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, […]
- Marfan/TAAD Sequencing & Del/Dup Panel
- Marfan Syndrome/TAAD Sequencing Panel
- Marfan Syndrome/TAAD Del/Dup Panel
Marfan/TAAD Sequencing & Del/Dup Panel
FORMS AND DOCUMENTS
- Test Requisition
- Specimen Requirements
- Test Info Sheet
- Physician Guide
- Patient Guide
- Medical Necessity Template
- ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2
- 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:
- Exon Array CGH|Next-gen Sequencing
- Test Code:
- Turnaround Time:
- 10 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 81405x3, 81406x1, 81408x2, 81411x1
- New York Approved:
- ABN Required:
- 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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- Loeys BL et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37(3):275-281, 2005.
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- GeneReviews: "Thoracic Aortic Aneurysms and Aortic Dissections" by Milewicz D et al. Genetests; http://www.genetests.org
- Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM
- Bennett S. Pharmacogenomics. 2004;5(4):433-8 (PubMed: 15165179)
- Van Hemelrijk C et al. The Loeys-Dietz syndrome: An update for the clinician. Curr Opin Cardiol 25:546-551, 2010.
- Stheneur C et al. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet. 17:1121-1128, 2009.
- Loeys BL The revised Ghent Nosology for the Marfan syndrome. J Med Genet 47:476-485, 2010