Glucose/galactose malabsorption is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe watery diarrhea and dehydration while taking glucose-containing or galactose-containing diets. The condition is life-threatening if not diagnosed and treated. Mutations in the Na+/glucose cotransporter gene SLC5A1 have been determined to cause the disease.
The detection rate for sequence variants is 99-100%. A negative test result reduces but does not eliminate the possibility of a functional deficiency of any of the listed genes as such a deficiency may be due to a variant in a genomic region not covered by the test (promoter or deep intronic regions of the genes). Copy number changes encompassing all or a portion of any of the listed genes will not be detected by this analysis.