| Test Information |
| Test Name |
Loeys-Dietz Syndrome |
| Lab (Location) |
Children's Hospital of Eastern Ontario |
| Category |
Cardiogenetics, Connective Tissue |
| Subcategory |
Loeys-Dietz Syndrome |
| Gene/Platform/Region List |
SLC2A10, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
|
| 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 |
Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage, MLPA (TGFBR1 and TGFBR2). |
| Diseases/Conditions |
Loeys-Dietz Syndrome, Loeys-Dietz Aortic Aneurysm Syndrome, Marfan syndrome type 2 |
