Galactosemia: Other
| Test Information | |
|---|---|
| Test Name | Galactosemia: Other |
| Lab (Location) | Newborn Screening Ontario |
| Category | Metabolic |
| Subcategory | Galactosemia |
| Gene/Platform/Region List | GALE, GALK1, GALM, GLUT2 (SLC2A2) |
| 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 | Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia) |