Short Description

Galactosemia is an autosomal recessive disorder resulting from 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%). In patients with Galactosemia, elevated plasma galactose levels may suggest ineffective dietary restriction or compliance. Increased concentrations of galactose may also be suggestive of severe hepatitis, biliary atresia of the newborn and galactose intolerance.

PreTest Information

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

Detail Description

GALACTOSEMIA PANEL 2 Test: Symptoms, Diagnosis, and Cost

Galactosemia is a rare genetic disorder that affects the body's ability to process galactose, a sugar found in milk and other dairy products. It is caused by a deficiency of one of three enzymes needed to break down galactose. The condition can lead to serious health problems, including liver damage, developmental delays, and cataracts.

The GALACTOSEMIA PANEL 2 Test is a diagnostic tool used to identify galactosemia. It tests for mutations in the GALT, GALK, and GALE genes, which are responsible for producing the enzymes needed to break down galactose. The test is used to confirm a suspected diagnosis of galactosemia, as well as to identify carriers of the condition.

Symptoms of Galactosemia

The symptoms of galactosemia can vary depending on the severity of the condition, but they typically appear within the first few days or weeks of life. Some common symptoms include:

• Jaundice (yellowing of the skin and eyes)
• Lethargy (lack of energy)
• Vomiting
• Diarrhea
• Poor weight gain
• Irritability
• Developmental delays
• Cataracts
• Enlarged liver

It's important to note that not all infants with galactosemia will display symptoms, which is why newborn screening is so important for early detection.

Diagnosis of Galactosemia

GALACTOSEMIA PANEL 2 Test is one of the diagnostic tools used to identify galactosemia. Other tests include:

• Newborn screening: This test is done shortly after birth and checks for elevated levels of galactose in the blood.
• Enzyme activity tests: These tests measure the activity of the enzymes responsible for breaking down galactose.
• Genetic testing: This test looks for mutations in the genes responsible for producing the enzymes needed to break down galactose.

Once a diagnosis of galactosemia is confirmed, treatment typically involves a galactose-free diet, which can help prevent further health complications.

Cost of GALACTOSEMIA PANEL 2 Test

The cost of the GALACTOSEMIA PANEL 2 Test in India is INR 4500. The cost may vary depending on the diagnostic center and location.

Conclusion

Galactosemia is a rare genetic disorder that can lead to serious health problems if left untreated. Early detection through newborn screening and diagnostic testing is crucial for ensuring prompt treatment and preventing further health complications. The GALACTOSEMIA PANEL 2 Test is one of the diagnostic tools used to identify galactosemia, and it's important to note that early detection and treatment can greatly improve outcomes for individuals with this condition.

If you suspect that you or your child may have galactosemia, speak with a healthcare provider to determine the appropriate diagnostic testing and treatment options.

For more information on genetic testing and diagnostic services, visit DNA Labs India.

Galactosemia is an autosomal recessive disorder resulting from 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%). In patients with Galactosemia, elevated plasma galactose levels may suggest ineffective dietary restriction or compliance. Increased concentrations of galactose may also be suggestive of severe hepatitis, biliary atresia of the newborn and galactose intolerance.