Genetic Test Details
Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
Test Information
- Titre
- Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
- Catégorie
- Metabolic
- Sub Category
- Galactosemia
- Gene/Platform/Region List
- GALT (N314D, Q188R)
- Test type
- Targeted Variant
- Samples Accepted
- DNA , Saliva , Blood , Cultured Cells , Buccal Swab
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- Sequencing
- Methodology Notes
- Targeted Variant: N314D (Duarte variant), Q188R (classic galactosemia)
- Disease/Condition
- Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)
Dernière Mise à Jour: 18 juin 2025