Galactosemia Gene Mutation

DESCRIPTION - Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy.

METHODOLOGY – polymerase chain reaction

TURN AROUND TIME – 7-10 days

SPECIMEN REQUIERED –

COLLECT – lavender (EDTA), pink (potassium EDTA), green (sodium heparin)

SPECIMEN PREPARATION – transport 3 ml whole blood

STORAGE/ TRANSPORT TEMPERATURE – refrigerated

STABILITY – ambient: 72 hours; refrigerated: 1 week

SPECIAL INSTRUCTIONS – clinical history is mandatory