Short Description

Galactosemia is an autosomal recessive disorder resulting form the deficiency of any of the three enzymes required for galactose metabolism. Galactosemia due to deficiency of Galactose -1- phosphate uridyl transferase (GALT) is the commonest cause and is called Classical Galactosemia. Duarte variant galactosemia is generally associated with higher levels of enzyme activity (5-20%) than Classical galactosemia (< 5%).

PreTest Information

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

Detail Description

GALACTOSEMIA PANEL 1 Test Cost INR 2866.5: Symptoms and Diagnosis

GALACTOSEMIA is a rare genetic disease that affects the body's ability to process a sugar called galactose. It is caused by mutations in the genes that control the enzymes needed to break down galactose. If left untreated, it can lead to serious health problems, such as liver damage, cataracts, and intellectual disability. DNA Labs India offers the GALACTOSEMIA PANEL 1 test at a cost of INR 2866.5 to help diagnose this condition.

Symptoms

The symptoms of GALACTOSEMIA can vary from person to person and can range from mild to severe. Some of the most common symptoms include:

• Jaundice
• Enlarged liver
• Poor weight gain
• Developmental delays
• Cataracts
• Intellectual disability
• Vomiting
• Diarrhea
• Irritability
• Seizures

Diagnosis

GALACTOSEMIA is typically diagnosed in newborn babies through newborn screening tests. These tests measure the amount of galactose in the baby's blood. If the levels are high, additional tests will be done to confirm the diagnosis.

The GALACTOSEMIA PANEL 1 test offered by DNA Labs India is a genetic test that can help confirm a diagnosis of GALACTOSEMIA. This test looks for mutations in the genes that control the enzymes needed to break down galactose. If mutations are found, it is likely that the person has GALACTOSEMIA.

Cost

The cost of the GALACTOSEMIA PANEL 1 test at DNA Labs India is INR 2866.5. This is a reasonable cost for a genetic test and is important to diagnose GALACTOSEMIA early to prevent serious health problems.

Conclusion

GALACTOSEMIA is a serious genetic disease that can lead to serious health problems if left untreated. Symptoms can vary, but can include jaundice, poor weight gain, and intellectual disability. Early diagnosis is important to prevent these complications. The GALACTOSEMIA PANEL 1 test offered by DNA Labs India is a genetic test that can confirm a diagnosis of GALACTOSEMIA. The cost of the test is INR 2866.5, which is a reasonable cost for a genetic test.

If you suspect that you or your child may have GALACTOSEMIA, it is important to speak to a healthcare provider about testing options. Early diagnosis and treatment can help prevent serious health problems.