Loeys-Dietz Syndrome
| 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 |