Galactosemia Panel 3 - Test, Procedure & Cost

This test is used to diagnose the presence of galactosemia in newborns.

What is Galactosemia panel 3?

A galactosemia test is a type of blood test given to newborns which helps to diagnose the rare genetic disease known as galactosemia. A disorder that helps to stop the body from breaking down a simple sugar which is called galactose.

What is Galactosemia?

Galactosemia is known as “galactose in the blood.” Galactosemia is an inherited disease that prevents your body from breaking down the sugar galactose, which triggers toxin levels in the body. This is a life-taking condition for the infant diagnosed with Galactosemia.

Causes of Galactosemia

Gene mutation is the primary cause of Galactosemia. Both parents are involved in this-they aren't provided with one copy of a mutated gene that generates symptoms of this disease, as the symptoms of Galactosemia are shown in the newborn as a surprise.

Types of Galactosemia

Type 1 Classic galactosemia - It is a very severe form of Galactosemia that becomes life-threatening for the infant if not treated correctly or in an early stage.

Galactokinase deficiency galactosemia -  Children affected by this type of Galactosemia do not adequately break down the galactose. This type of deficiency is not diagnosed in all Galactosemia screening.

Signs and symptoms of Galactosemia

• Loss of appetite
• Generalized weakness
• Loose stools
• Vomiting
• Jaundice
• Hepatomegaly
• Ascites
• Inflammation in abdomen
• Edema around the brain
• Unpredictable weight loss

What is the usual range of Galactosemia

• Erythrocyte galactose-1-phosphate is normal when it shows  <1 mg/dL.
• Erythrocyte GALT enzyme activity is close to or above 1%  and not more than 10% - 15%.

Risk of Galactosemia test

A little prick will be felt by the baby, which forms a small bruise at the site of the hole, and this bruise should go away.

Procedure

A technician will first clean the baby's heel with a spirit or antiseptic agehealthThen the healthcare provider will poke the heel with a needle and collect a few drops of blood for a sample. A bandage will cover the baby's heel in the end.