GALT deficiency

Test Information
Test Name GALT deficiency
Lab (Location) Newborn Screening Ontario
Category Metabolic
Subcategory Galactosemia
Gene/Platform/Region List GALT
Test type Single Gene
Samples Accepted Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances)
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology Sequencing
Diseases/Conditions Galactosemia