Short Description

Galactose-1-phosphate uridyltransferase (or GALT) is an enzyme responsible for converting ingested galactose to glucose. This test helps in determining the mutation responsible for Galactosemia.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

GALACTOSEMIA (GALT) GENE MUTATION DETECTION Test

GALACTOSEMIA (GALT) is a rare genetic disorder that affects the body's ability to process galactose, a type of sugar found in milk and dairy products. This condition is caused by mutations in the GALT gene, which provides instructions for making an enzyme called galactose-1-phosphate uridylyltransferase. Without this enzyme, galactose builds up in the body, causing a range of symptoms and complications.

Symptoms of GALACTOSEMIA (GALT) Gene Mutation

The symptoms of GALACTOSEMIA (GALT) gene mutation can vary widely, depending on the severity of the condition. Some common symptoms include:

• Jaundice
• Lack of appetite
• Weight loss
• Vomiting
• Diarrhea
• Lethargy
• Developmental delays
• Speech difficulties
• Intellectual disability
• Cataracts
• Enlarged liver
• Enlarged spleen

Diagnosis of GALACTOSEMIA (GALT) Gene Mutation

GALACTOSEMIA (GALT) gene mutation can be diagnosed through a blood test that measures the level of galactose-1-phosphate uridylyltransferase in the blood. This test is typically done on newborns as part of routine screening for genetic disorders. If the test is positive, further testing is done to confirm the diagnosis.

GALACTOSEMIA (GALT) Gene Mutation Detection Test Cost

The cost of the GALACTOSEMIA (GALT) gene mutation detection test in India is INR 11500. This test is available at DNA Labs India, a leading provider of genetic testing services in the country.

Conclusion

If you or someone you know is experiencing symptoms of GALACTOSEMIA (GALT) gene mutation, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help prevent complications and improve outcomes. The GALACTOSEMIA (GALT) gene mutation detection test is a simple and effective way to diagnose this condition, and it is available at DNA Labs India at an affordable cost.

For more information about this test or to schedule an appointment, please contact DNA Labs India today.

Galactose-1-phosphate uridyltransferase (or GALT) is an enzyme responsible for converting ingested galactose to glucose. This test helps in determining the mutation responsible for Galactosemia.