AGDx NGS – Aortic or arterial dilatation / dissection panel v3.0

Test code: V00006
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Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.

Genes

ABL1, ACTA2, ALMS1, ARIH1, BGN, COL1A1, COL3A1, COL5A1, FBN1, FBN2, FOXE3, LMOD1, LOX, LTBP3, MAT2A, MFAB5, MYH11, MYLK, NOTCH1, NPR3, PMEPA1, PRKG1, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Disorder(s)

  • Aortic valve disease 1 (OMIM: 109730)
  • Arterial tortuosity syndrome (OMIM: 208050)
  • Congenital contractural arachnodactyly (OMIM: 121050)
  • Ehlers-Danlos syndrome kyphoscoliotic type (OMIM: 225400)
  • Ehlers-Danlos syndrome vascular type (OMIM: 130050)
  • Marfan Syndrome (OMIM: 154700)
  • Thoracic Aortic Aneurysm with Dissection - TAAD
  • van den Ende-Gupta syndrome (OMIM: 600920)

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