Homocystinuria: Hypermethioninemia
| Test Information | |
|---|---|
| Test Name | Homocystinuria: Hypermethioninemia |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Amino Acid Disorders |
| Gene/Platform/Region List | ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Diseases/Conditions | Hypermethioninemia, homocystinuria |