Neurofibromatosis Type 1/Legius Syndrome
| Test Information | |
|---|---|
| Test Name | Neurofibromatosis Type 1/Legius Syndrome |
| Lab (Location) | The Hospital for Sick Children |
| Category | Cancer |
| Subcategory | Neurofibromatosis type 1 |
| Gene/Platform/Region List | NF1, SPRED1 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, DNA (Not Accepted for MLPA) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | NGS + Targeted Array; MLPA |
| Diseases/Conditions | Neurofibromatosis Type 1(NF1), Von Recklinghausen Disease, Legius Syndrome |
| Notes | DNA not accepted for MLPA |