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. It is a mild and rare variant of galactosemia.

PreTest Information

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

Detail Description

GALACTOSEMIA (EPIMERASE) QUANTITATIVE BLOOD Test cost INR:2866.5 symptoms diagnosis

Galactosemia is a rare genetic disorder that affects the body's ability to break down galactose, a sugar found in milk and other dairy products. Galactosemia (Epimerase) Quantitative Blood Test is a diagnostic test that measures the levels of galactose in the blood, helping in the diagnosis of galactosemia. The cost of the test is INR 2866.5.

Symptoms of Galactosemia

The symptoms of galactosemia can vary depending on the severity of the condition. In some cases, the symptoms may not be noticeable until a baby is fed milk or other dairy products. Some common symptoms include:

• Jaundice
• Lethargy
• Failure to thrive
• Vomiting
• Diarrhea
• Seizures
• Developmental delays

Diagnosis of Galactosemia

The diagnosis of galactosemia is usually made through newborn screening tests. These tests are done shortly after birth and involve a simple blood test. If the initial screening test is positive, further testing will be done to confirm the diagnosis.

The Galactosemia (Epimerase) Quantitative Blood Test is a diagnostic test that measures the levels of galactose in the blood, helping in the diagnosis of galactosemia. The test is usually ordered if a person has symptoms of galactosemia or if they have a family history of the condition.

Cost of Galactosemia (Epimerase) Quantitative Blood Test

The cost of the Galactosemia (Epimerase) Quantitative Blood Test is INR 2866.5. This cost may vary depending on the laboratory where the test is done. It is important to check with the laboratory to confirm the cost before getting the test done.

Conclusion

Galactosemia is a rare genetic disorder that affects the body's ability to break down galactose. The Galactosemia (Epimerase) Quantitative Blood Test is a diagnostic test that measures the levels of galactose in the blood, helping in the diagnosis of galactosemia. The cost of the test is INR 2866.5. If you or your child has symptoms of galactosemia or if you have a family history of the condition, it is important to talk to your doctor and get the necessary tests done.

At DNA Labs India, we offer a wide range of genetic testing services, including the Galactosemia (Epimerase) Quantitative Blood Test. Our tests are performed by experienced professionals using state-of-the-art technology to ensure accurate and reliable results. Contact us today to learn more about our services.