| Test Information |
| Test Name |
Homocystinuria |
| Lab (Location) |
Newborn Screening Ontario |
| Category |
Metabolic |
| Subcategory |
Amino Acid Disorders |
| Gene/Platform/Region List |
ADK, AHCY, CBS, GNMT, MAT1A, SLC25A13, MTHFR, MTR, MTRR |
| 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 |
Adenosine Kinase Deficiency, SAH Deficiency, Cystathionine Beta-Synthase Deficiency, Homocystinuria, Glycine N-Methyltransferase Deficiency, MAT Deficiency, Citrin Deficiency, Methylenetetrahydrofolate Reductase Deficiency, CblE, CblG |
