Galactosemia Screening, Blood - Book Test at Low Cost

Galactosemia is an autosomal recessive disorder, usually asymptomatic at birth, but affects infants. It develops the health issues such as jaundice, diarrhea, vomiting and failure to gain weight.  If the disease remains undetected, then it leads to liver disease, cataracts, mental retardation, and even death.

A galactosemia screening blood test is a test for new born babies to check for an autosomal recessive disorder called galactosemia. The disorder prevents the body from breaking down a simple sugar called galactose (derived from milk sugar and found in various foods and dairy products).

Usually, enzymes break down galactose but in case of genetic change affects the function of the enzymes, Galactosemia happens.

There are three types of galactosemia:

• GALT (galactose-1 phosphate uridyl transferase) deficiency- A severe form of the disorder. It is also called classic galactosemia.
• GALK (galactose kinase) deficiency
• GALE (galactose epimerase) deficiency

The Other names of the test is  galactosemia newborn screening test, GALT test

Why is Galactosemia screening Blood Done?

A galactosemia test is used to diagnose galactosemia in babies. It helps in identifying whether the baby has a deficiency of GALT, GALK, or GALE. Because the accumulation of galactose causes various problems such as

• Vomiting
• Poor weight gain
• Refusal to eat
• Irritability
• Jaundice
• Feeding problems
• Sepsis
• Diarrhoea
• Hypoglycemia

What is the procedure for Galactosemia Screening Blood?

4ml blood will be taken for the procedure for Galactosemia screening blood.

Preparation for Galactosemia Screening Blood

There is no special preparation needed for Galactosemia Screening Blood.

Result

The result of the test will be either positive or negative for galactosemia. If the result is negative, the child has no disorder and if the result is positive, then your baby has a disorder and the doctor may ask for further testing.

Cost of Galactosemia Screening Blood

The cost of Galactosemia Screening Blood near me in Delhi ranges from INR 700 to INR 900.