Rare Familial Mutations
| Test Information | |
|---|---|
| Test Name | Rare Familial Mutations |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Genome-wide |
| Subcategory | Known Familial Variant |
| Test type | Single Gene |
| Samples Accepted | Amniocyte, Blood, Cultured Cells, CVS, DNA |
| Indications Diagnosis | Carrier / Cascade Testing, Diagnosis, Prenatal |
| Test Methodology | CNV, LR-PCR, Sequencing |
| Methodology Notes | MLPA |