Results usually available in 5-7 working days.
Galactosemia is an autosomal recessive genetic disease affecting approximately 1 in 5,000 individuals in the Caucasian population. It is caused by defects in galactose-1-phosphate uridyl transferase (GALT) resulting in elevation of galactose-1-phosphate (Gal-1-P). Accumulation of galactose can cause serious complications such as enlarged liver, kidney failure, cataract, and brain damage; if untreated, as high as 75% of infants will die. More than 150 mutations have been found in the GALT gene. The most common mutations are Q188R (70% in classic Galactosemia among Caucasians) and N314D (nearly 100% in Duartes alleles). The lab uses RFLP analysis to detect both the N314D and Q188R mutations. If Galactosemia is suspected in a patient who has previously tested negative, the lab also offers full gene sequencing by NGS technology.