Short Description

Galactosemia is an autosomal recessive disorder caused by inability to metabolize galactose which is derived from lactose (milk sugar). The accumulation of galactose can cause feeding problems, vomiting, sepsis, diarrhoea, dehydration and hypoglycemia. Cataracts and mental retardation develop gradually.

PreTest Information

Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.

Detail Description

GALACTOSEMIA SCREENING BLOOD Test: Symptoms, Diagnosis, and Cost in India

GALACTOSEMIA is a rare genetic disorder that affects a person's ability to metabolize galactose, a sugar found in milk and other dairy products. If left untreated, it can lead to serious health problems, including liver and kidney damage, intellectual disability, and even death.

Symptoms of GALACTOSEMIA

Symptoms of GALACTOSEMIA can vary from person to person and may not appear until several days or weeks after birth. Some common symptoms include:

• Jaundice (yellowing of the skin and eyes)
• Poor feeding and weight gain
• Vomiting and diarrhea
• Lethargy and irritability
• Enlarged liver

If left untreated, these symptoms can progress to more serious health problems, including liver and kidney damage, intellectual disability, and even death.

Diagnosis of GALACTOSEMIA

The diagnosis of GALACTOSEMIA is typically made through a blood test that measures the levels of galactose and other sugars in the blood. The test is usually performed on newborns as part of routine newborn screening. If the test results are positive, additional testing may be required to confirm the diagnosis.

Other diagnostic tests that may be used include:

• Urine tests
• Genetic testing
• Liver function tests
• Imaging studies, such as ultrasound or MRI

Cost of GALACTOSEMIA SCREENING BLOOD Test in India

The cost of GALACTOSEMIA SCREENING BLOOD Test in India varies depending on the location and the laboratory where the test is conducted. On average, the cost of the test ranges from INR 500 to INR 1500. However, at DNA Labs India, the cost of the GALACTOSEMIA SCREENING BLOOD Test is INR 819.

Conclusion

GALACTOSEMIA is a rare genetic disorder that can lead to serious health problems if left untreated. Early diagnosis and treatment are essential to prevent complications and improve outcomes. If you suspect that you or your child may have GALACTOSEMIA, speak to your doctor about getting tested. At DNA Labs India, we offer affordable and accurate GALACTOSEMIA SCREENING BLOOD Test to help you get the answers you need.