| 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) |
