Oct 26, 2009: GENDIA now offers a next-generation sequencing platform for the molecular diagnosis of Familial Aortopathies with complete sequencing of the following 6 genes:
- FBN1 gene encoding fibrillin 1 for Marfan syndrome, MASS (mitral valve, aorta, skeleton, and skin) syndrome, isolated ectopia lentis, Weill-Marchesani syndrome, and Shprintzen-Goldberg syndrome
- TGFBR1 gene encoding transforming growth factor-beta receptor, type 1 for Loeys-Dietz Syndrome, Marfan-like syndrome (Marfan syndrome type 2), and Ehlers-Danlos syndrome type 4
- TGFBR2 gene encoding transforming growth factor-beta receptor, type 2 for Loeys-Dietz Syndrome, Marfan-like syndrome (Marfan syndrome type 2), Ehlers-Danlos syndrome type 4, and Thoracic Aortic Aneurysms
- COL3A1 gene encoding Collagen 3 for Ehlers-Danlos syndrome type 4
- ACTA2 gene encoding aortic smooth muscle actin for Thoracic Aortic Aneurysms
- MYH11 gene encoding Myosin 11 for Thoracic Aortic Aneurysms
The price for the analysis of the 6 genes in a single sample is 1500 Euro.
Once a disease-causing mutation is identified, family members can be screened for that mutation at 250 Euro.
The turnaround time of the test is 3 months.
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