SLC5A1 GENE ANALYSIS
Glucose-Galactose Malabsorption is an autosomal recessive disorder which presents within the first weeks of life with severe watery and acidic diarrhoea and dehydration. The disorder can be fatal within a few weeks unless glucose and galactose are eliminated from the diet. Disease-causing variants in the SLC5A1 gene have been identified in 30/73 (41%) cases with Glucose-Galactose Malabsorption (Wang et al 2020 PMID: 32946683).
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.