Galactosemia is an autosomal recessive disorder resulting form the deficiency of any of the three enzymes required for galactose metabolism. Galactosemia due to deficiency of Galactose -1- phosphate uridyl transferase (GALT) is the commonest cause and is called Classical Galactosemia. Duarte variant galactosemia is generally associated with higher levels of enzyme activity (5-20%) than Classical galactosemia (< 5%).

  • Test Type:
  • Pre-test Information:
    Avoid sample collection for 60 days post transfusion
  • Report Delivery:
    Sample Daily by 4 pm; Report 5 Days
  • Components:

Sample Report