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Beta Galactocerebrosidase (Krabbe)

Beta Galactocerebrosidase (Krabbe)

The Beta Galactocerebrosidase test, often referred to as the Krabbe test, is a crucial diagnostic tool used to detect Krabbe disease. Krabbe disease, also known as globoid cell leukodystrophy, is a rare genetic disorder characterized by the lack of the enzyme Beta Galactocerebrosidase. This enzyme is necessary for breaking down certain fats called galactolipids, which are abundant in brain and nerve cells. A deficiency in this enzyme can result in an accumulation of galactolipids, causing damage to the nerves and leading to the symptoms of Krabbe disease.

  • Test Name
  • Sample Type Blood
  • Preparations Required No specific preparation is required for this test.
  • Report Time 14-21 days

This test measures the level of Beta Galactocerebrosidase in the blood or tissues. Reduced levels of this enzyme indicate a likelihood of Krabbe disease. Understanding the role and importance of this enzyme can lead to early detection and intervention, potentially slowing the progression of this disease.

Home Sample Collection Process

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Sample Collection by Phlebotomist
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Reporting of the sample at lab
Reporting of the sample at lab
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Frequently Asked Questions

This test is essential because it helps diagnose Krabbe disease, a serious and often fatal neurological. Early detection can guide treatment and may improve quality of life.

No, fasting is not required for this test.

No specific preparations are required. However, it's important to inform your healthcare provider about any medications you're taking or other medical conditions you have.

This test is typically recommended if there are symptoms suggesting Krabbe disease, such as irritability, muscle weakness, feeding difficulties, or developmental delay in infants.

This test measures the level of Beta Galactocerebrosidase, an enzyme that breaks down certain fats in the body. Lower levels can indicate Krabbe disease.

This test is typically performed only once to diagnose Krabbe disease, or if there is a family history of the condition.

Normal values can vary among different laboratories. Generally, decreased levels of Beta Galactocerebrosidase suggest Krabbe disease.

There are no specific precautions required for this test. However, ensure that you follow your healthcare provider's instructions.

Certain medical conditions and medications can potentially interfere with the results of this test. It's important to discuss these factors with your healthcare provider.

If the test results indicate a possibility of Krabbe disease, you should consult a neurologist or a geneticist, specialists in neurological and genetic disorders respectively.

The Beta Galactocerebrosidase test is quite accurate in diagnosing Krabbe disease. However, additional tests may be needed to confirm the diagnosis.

The results of this test will help confirm the diagnosis of Krabbe disease, guiding the management and treatment plan. This might include supportive care, physical therapy, and potentially hematopoietic stem cell transplantation.

This test does not directly predict the severity or prognosis of Krabbe disease. However, it plays a critical role in diagnosing the condition, which in turn influences the prognosis.

This test is not typically used to monitor treatment response in Krabbe disease, but it is crucial in the initial diagnostic process.

The Beta Galactocerebrosidase test specifically measures the level of an enzyme linked to Krabbe disease, making it a key tool in diagnosing this particular condition.

The Beta Galactocerebrosidase (Krabbe) test is a crucial component in diagnosing and understanding Krabbe disease. With this valuable diagnostic tool, healthcare providers can detect this condition early, offering better management options and potentially improving quality of life. Even though facing a diagnosis of Krabbe disease can be challenging, knowledge about this condition and its diagnosis can empower patients and caregivers to make informed healthcare decisions.

Beta Galactocerebrosidase (Krabbe)
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