Tuberous Sclerosis
| Test Information | |
|---|---|
| Test Name | Tuberous Sclerosis |
| Lab (Location) | University Health Network |
| Category | Cancer |
| Subcategory | Tuberous Sclerosis |
| Gene/Platform/Region List | TSC1, TSC2 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Saliva |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Mosaicism Protocol |
| Diseases/Conditions | Tuberous Sclerosis Complex, Bourneville Pringle Syndrome, Phakomatosis, TS, Tuberose Sclerosis |
| Notes | May detect variants with an AF as low as 5% Saliva samples must be provided in oragene, OG-600 kits; UHN does not provide collection kits but they can be obtained directly from DNA genotek (www.dnagenotek.com) |