Galactose-1-Phosphate Uridyl Transferase Deficiency
| Test Information | |
|---|---|
| Test Name | Galactose-1-Phosphate Uridyl Transferase Deficiency |
| Lab (Location) | Hamilton Health Sciences Centre |
| Category | Metabolic |
| Subcategory | Galactose-1-Phosphate Uridyl Transferase Deficiency |
| Gene/Platform/Region List | GALT |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology | Sequencing |
| Methodology Notes | Direct Exon 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) |