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