Galactose-Total Neonatal Screen from Dried blood spot Test

This test measures the level of total galactose in a newborn's blood. 

• This test is mainly done to detect galactosemia, a rare genetic disorder that prevents the body from breaking down galactose properly.
• Early detection of the condition is important to prevent complications as it can cause severe health problems if left undetected.

• This test is recommended for all newborns as part of routine screening performed in the first few days of life.
• It is especially important for infants with a family history of galactosemia or when they present with symptoms like vomiting, diarrhoea, jaundice, lethargy, or poor feeding.

Elevated levels may indicate galactosemia, which can cause serious health problems if not managed properly. 

During this test, a small amount of blood is collected from your newborn's heel or finger. The procedure is quick, simple and causes minimum discomfort to your baby.

No special preparations are required for this test. However, you should inform your doctor if your baby has received any blood transfusion within the last 72 hours or has been on antibiotics or IV fluids as it may affect the accuracy of the test.

If an abnormal result is found, your doctor may order additional tests like plasma amino acid testing, liver function tests, or genetic testing to confirm the diagnosis of galactosemia and assess its severity.

Newborn screening for galactosemia using DBS card

Galactosemia is a rare genetic disorder that affects a person's ability to metabolise galactose properly. If left untreated, it can cause serious health problems such as cataracts, liver damage, and brain damage. Early detection through newborn screening is important for effective management.