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 16/26 (62%) families with Glucose-Galactose Malabsorption (Martin et al, Nat Genet 1996, 12: 216-220).
Please note: for NHS patients in England this test has been superseded with gene panel testing (please contact your local Genomic Laboratory Hub to determine the most appropriate panel). Single gene testing is only available if required urgently for clinical management.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.