Short Description

Gaucher disease is an autosomal recessive lysosomal storage disease that leads to accumulation of glucocerebroside in tissues due to defective activity of enzyme Beta Glucosidase with mutations in GBA1 gene. All patients have non-uniform infiltration of bone marrow by Gaucher cells. Type 1 Gaucher disease is the commonest & is Non-Neuronopathic whereas Types 2 & 3 are Neuronopathic. Types 1 & 3 Gaucher disease can be easily treated by enzyme replacement therapy. Type 2 disease is rare, severe leading to death by 2 years of age.

PreTest Information

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Detail Description

GAUCHER DISEASE QUANTITATIVE BLOOD Test cost INR:3500 symptoms diagnosis

Gaucher Disease is a rare genetic disorder that affects the body's ability to break down a type of fat called glucocerebroside. This results in the accumulation of fat in various organs, including the liver, spleen, and bone marrow. Gaucher Disease is caused by mutations in the GBA gene, which provides instructions for making an enzyme called glucocerebrosidase. Without this enzyme, glucocerebroside accumulates in the body.

Symptoms of Gaucher Disease

The symptoms of Gaucher Disease can vary widely depending on the type of Gaucher Disease a person has. Some of the most common symptoms include:

• Anemia and fatigue
• Bone pain and fractures
• Enlarged liver and spleen
• Easy bruising and bleeding
• Delayed growth and puberty
• Yellowing of the skin and eyes (jaundice)
• Increased risk of infections

Diagnosis of Gaucher Disease

Diagnosing Gaucher Disease usually involves a combination of physical exams, blood tests, and imaging tests. One of the most common blood tests used to diagnose Gaucher Disease is the Gaucher Disease Quantitative Blood Test. This test measures the amount of glucocerebrosidase in the blood and can help doctors determine if a person has Gaucher Disease and what type of Gaucher Disease they have.

The Gaucher Disease Quantitative Blood Test is a simple blood test that can be done in a doctor's office or laboratory. The test measures the amount of glucocerebrosidase in the blood and compares it to normal levels. If the levels are lower than normal, it is a sign that a person may have Gaucher Disease.

Cost of Gaucher Disease Quantitative Blood Test

The cost of the Gaucher Disease Quantitative Blood Test in India is around INR 3500. This cost may vary depending on the location and the laboratory where the test is performed.

Conclusion

Gaucher Disease is a rare genetic disorder that can cause a wide range of symptoms. If you or someone you know is experiencing any of the symptoms of Gaucher Disease, it is important to speak with a doctor. The Gaucher Disease Quantitative Blood Test is a simple and effective way to diagnose Gaucher Disease and can help doctors determine the best course of treatment.

At DNA Labs India, we offer a wide range of genetic testing services, including the Gaucher Disease Quantitative Blood Test. Our team of experienced and qualified professionals is dedicated to providing accurate and timely results to our clients. Contact us today to learn more about our services.

Gaucher disease is an autosomal recessive lysosomal storage disease that leads to accumulation of glucocerebroside in tissues due to defective activity of enzyme Beta Glucosidase with mutations in GBA1 gene. All patients have non-uniform infiltration of bone marrow by Gaucher cells. Type 1 Gaucher disease is the commonest & is Non-Neuronopathic whereas Types 2 & 3 are Neuronopathic. Types 1 & 3 Gaucher disease can be easily treated by enzyme replacement therapy. Type 2 disease is rare, severe leading to death by 2 years of age.