Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
| Test Information | |
|---|---|
| Test Name | Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT) |
| Lab (Location) | London Health Sciences Centre |
| Category | Metabolic |
| Subcategory | Galactosemia |
| Gene/Platform/Region List | GALT (N314D, Q188R) |
| Test type | Targeted Variant |
| Samples Accepted | Blood, DNA, Cultured Cells, Buccal, Saliva |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | Sequencing |
| Methodology Notes | Targeted Variant: N314D (Duarte variant), Q188R (classic galactosemia) |
| 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) |