Glucose/galactose malabsorption (GGM) 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. Variants in the Na+/glucose cotransporter gene SLC5A1 have been determined to cause the disease. The c.1673G>A (p.Arg558His) variant in exon 14 of the SLC5A1 gene is the most frequent pathogenic variant found in the Amish population. This targeted test will specifically analyze the c.1673G>A variant.
1 - 2 weeks