Galactosemia, GALT Gene, Variant Panel, Varies

Use

This test serves as a second-tier test to confirm a diagnosis of galactosemia identified through enzymatic testing or newborn screening. It is useful for carrier testing among family members with a known genotype within the panel and is instrumental in resolving Duarte and Los Angeles variant genotypes. Galactosemia is an autosomal recessive disorder caused by a deficiency in any of four enzymes catalyzing the conversion of galactose to glucose, with GALT deficiency being the most common cause. The test aids in assessing variants in the GALT gene, linked to classic galactosemia, which is a potentially life-threatening condition if not treated immediately with a galactose-restricted diet. Despite treatment, developmental delays and reproductive issues may occur, placing an emphasis on accurate diagnosis.