Arterial Tortuosity Syndrome
| Test Information | |
|---|---|
| Test Name | Arterial Tortuosity Syndrome |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Cardiogenetics, Connective Tissue |
| Subcategory | Arterial Tortuosity Syndrome |
| Gene/Platform/Region List | SLC2A10 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | Sequencing |
| Methodology Notes | Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage. |
| Diseases/Conditions | Arterial Tortuosity Syndrome (ATS) |