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 3 Test: Cost, Symptoms, and Diagnosis

Galactosemia is a rare genetic disorder that affects the body's ability to break down galactose, a type of sugar found in dairy products and some fruits and vegetables. This condition is caused by mutations in genes that produce enzymes needed to break down galactose into glucose, which the body can use for energy.

To diagnose galactosemia, doctors can perform a series of tests, including the Galactosemia Panel 3 test. In this blog post, we will discuss the cost, symptoms, and diagnosis of the Galactosemia Panel 3 test offered by DNA Labs India.

Symptoms of Galactosemia

Galactosemia can cause a variety of symptoms, including:

• Jaundice (yellowing of the skin and eyes)
• Poor feeding and weight gain
• Vomiting and diarrhea
• Irritability
• Lethargy
• Tremors
• Seizures
• Delayed speech and language development
• Cognitive impairment
• Menstrual irregularities (in females)

It is important to note that some infants with galactosemia may not show symptoms right away, but they can still experience long-term complications if the condition is not diagnosed and treated early.

Diagnosis of Galactosemia

Galactosemia is typically diagnosed in newborns through routine newborn screening tests. These tests measure the levels of galactose and other substances in the blood. If the screening test is positive, additional tests will be done to confirm the diagnosis.

The Galactosemia Panel 3 test offered by DNA Labs India is a genetic test that can confirm a diagnosis of galactosemia. This test analyzes three genes associated with galactosemia: GALT, GALK1, and GALE. Mutations in any of these genes can cause galactosemia.

The Galactosemia Panel 3 test is performed using a small blood sample. The sample is sent to a laboratory, where it is analyzed for mutations in the GALT, GALK1, and GALE genes. The results of the test can help doctors confirm a diagnosis of galactosemia and determine the best course of treatment.

Cost of the Galactosemia Panel 3 Test

The cost of the Galactosemia Panel 3 test offered by DNA Labs India is INR 4563. This includes the cost of the test, as well as any necessary consultations with a genetic counselor or other healthcare provider.

It is important to note that the cost of genetic testing can vary depending on a number of factors, including the specific test being performed, the laboratory performing the test, and any additional consultations or follow-up tests that may be required.

Conclusion

The Galactosemia Panel 3 test offered by DNA Labs India is a valuable tool for diagnosing galactosemia. This genetic test can help doctors confirm a diagnosis of galactosemia and determine the best course of treatment. If you suspect that you or your child may have galactosemia, talk to your healthcare provider about whether the Galactosemia Panel 3 test is right for you.

Remember, early diagnosis and treatment of galactosemia can help prevent long-term complications and improve outcomes for individuals with this condition.

For more information about the Galactosemia Panel 3 test and other genetic testing services offered by DNA Labs India, visit their website or contact their team directly.