Thoracic aneurisms and aortic dissections
| Test Information | |
|---|---|
| Test Name | Thoracic aneurisms and aortic dissections |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Cardiogenetics |
| Subcategory | Thoracic aneurisms and aortic dissections |
| Gene/Platform/Region List | ACTA2, ARIH1, COL3A1, EFEMP2, FBN1, FOXE3, LOX, MYH11, MYLK, PRKG1, ROBO4, SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | LR-PCR (MYLK exons 15-18), MLPA:COL3A1, FBN1, TGFBR2, and TGFBR1 |
| Diseases/Conditions | Thoracic aneurisms and aortic dissections (TAAD), Annuloaortic ectasia, Familial aortic dissection, Familial aortic aneurysm |