Genes | BGN, ACTA2, COL3A1, EFEMP2, ELN, FBN1, FBN2, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 |
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Lab method | NGS Sequencing |
Turnaround time | 3 months |
Location | Location VU |
Price | € 1.115,00 |
AGDx NGS – Aortic or arterial dilatation / dissection panel v2.1
Test code: V00006Disorder(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)