Short Description

Galactosemia usually is asymptomatic at birth, but affected infants develop jaundica, diarrhoea, vomiting & failure to gain weight. If the disease remains undetected, it leads to liver disease, cataract, mental retardation and even death. Bacterial infections are common & can lead to sepsis with ingestion of milk in the affected child.

PreTest Information

Clinical details and drug history must accompany sample.

Detail Description

GALACTOSEMIA NEWBORN SCREEN Test: Symptoms, Diagnosis, and Cost

GALACTOSEMIA is a genetic disorder that affects the body's ability to process a sugar called galactose. This condition is caused by a deficiency of an enzyme that breaks down galactose, resulting in a buildup of this sugar in the body. GALACTOSEMIA can cause serious health problems, including liver damage, developmental delays, and cataracts. The good news is that this condition can be detected early through a simple blood test called GALACTOSEMIA NEWBORN SCREEN. In this blog, we will cover the symptoms, diagnosis, and cost of GALACTOSEMIA NEWBORN SCREEN Test.

Symptoms of GALACTOSEMIA

The symptoms of GALACTOSEMIA can vary depending on the severity of the condition. Some common symptoms include:

• Jaundice (yellowing of the skin and eyes)
• Enlarged liver
• Poor feeding
• Vomiting
• Diarrhea
• Lack of energy
• Developmental delays
• Cataracts

If your baby is exhibiting any of these symptoms, it is important to speak with your doctor as soon as possible. Early diagnosis and treatment can help prevent serious complications.

Diagnosis of GALACTOSEMIA

GALACTOSEMIA can be diagnosed through a blood test called GALACTOSEMIA NEWBORN SCREEN. This test is typically performed within the first few days of a baby's life, as early detection is crucial for effective treatment. The test measures the levels of galactose and other sugars in the baby's blood. If the levels are elevated, further testing will be needed to confirm the diagnosis.

If your baby is diagnosed with GALACTOSEMIA, it is important to work closely with your doctor to develop a treatment plan. Treatment typically involves a strict diet that is low in galactose and other sugars. In some cases, additional medications or supplements may be needed to help manage the condition.

Cost of GALACTOSEMIA NEWBORN SCREEN Test

The cost of GALACTOSEMIA NEWBORN SCREEN Test in India is INR 292.5. This test is typically covered by health insurance, but it is important to check with your insurance provider to confirm coverage.

Conclusion

GALACTOSEMIA is a serious genetic disorder that can lead to serious health problems if left untreated. Early detection through a simple blood test called GALACTOSEMIA NEWBORN SCREEN is crucial for effective treatment. If you suspect that your baby may have GALACTOSEMIA, it is important to speak with your doctor as soon as possible. With early diagnosis and treatment, most babies with GALACTOSEMIA can lead healthy, normal lives.