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Hayward Genetics Center ~ Tests ~ Galactosemia

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.