Familial Thoracic Aortic Aneurysm and Dissection
and Related Syndromes
NGS panel

Genes
(full
coding region):		 ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, ACTA2, BGN, B3GALT6, B3GAT3, B4GALT7, CBS, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, C1R, C1S, DSE, EFEMP2, ELN, FBLN5, FKBP14, FLNA, FBN1, FBN2, FOXE3, GORAB, HCN4, LTBP4, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1,PYCR1, RIN2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4,TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, TNXB, ZNF469

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-8 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: FBN1, TGFBR2
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Differential diagnosis of familial TAAD, Marfan syndrome, Loeys-Dietz syndrome and genetically/phenotypically related disorders
  3. Predictive testing for at-risk asymptomatic family members
  4. Prenatal diagnosis for known familial mutation
  5. Genetic counseling

Familial Thoracic Aortic Aneurysm and Dissection (TAAD) is characterized by enlargement of ascending aorta leading to an aortic dissection or, rarely, aortic rupture. Aortic dilatation is usually the first manifestation of the disease that may lead to the development of aortic aneurysm and aortic dissection. Aortic dissection occurs when the tear in the aorta wall allows blood to flow between the aorta’s inner and outer walls. Aortic dissections originate primarily in the ascending aorta (Stanford type A), but also can occur in the descending thoracic aorta (Stanford type B).

Thoracic aortic aneurysms may be asymptomatic. Aneurysms and dissections can occur as an isolated cardiovascular abnormality or are related to genetic disorders such as Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and others.

Familial TAAD is inherited in an autosomal dominant pattern. Up to 19% of persons with TAAD have a first-degree relative with thoracic aortic disease.

References:

Albornoz G et al. Familial thoracic aortic aneurysms and dissections–incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006;82:1400–5.
Milewicz DM and Regalado E. Thoracic Aortic Aneurysms and Aortic Dissections. GeneReviews® 2003 February 13 (Updated 2012 January 12).