Short Description

Niemann-Pick disease is an autosomal recessive lysosomal storage disease caused by deficiency of enzyme Sphingomyelinase. It is of 2 types - Type A disease manifests in the first 6 months of life with rapid progressive CNS deterioration, hepatosplenomegaly & failure to thrive. Type B disease manifests later in life with progressive hepatosplenomegaly eventually leading to cirrhosis. Mutations have been detected in NPC1 or NPC2 gene.

PreTest Information

Provide brief clinical history.

Detail Description

NIEMANN PICK DISEASE QUANTITATIVE BLOOD TEST COST INR:2562.3 SYMPTOMS DIAGNOSIS

Niemann-Pick Disease is a rare genetic disorder that causes the accumulation of harmful amounts of lipids in the body's organs, primarily the liver, spleen, and brain. This disease is caused by mutations in genes that help produce enzymes that break down lipids in cells. Due to this reason, lipid levels build up in the organs, causing various health issues.

SYMPTOMS OF NIEMANN-PICK DISEASE

The symptoms of Niemann-Pick Disease can vary depending on the type of disease. However, the most common symptoms include:

• Jaundice
• Enlarged liver and spleen
• Difficulty in swallowing
• Difficulty in walking
• Frequent respiratory infections
• Seizures
• Delayed development

DIAGNOSIS OF NIEMANN-PICK DISEASE

Diagnosing Niemann-Pick Disease can be complicated since the symptoms are similar to other diseases. However, doctors can perform several tests to confirm the diagnosis. These tests may include:

• Quantitative Blood Test
• Genetic Testing
• Bone Marrow Biopsy
• Skin Biopsy

NIEMANN-PICK DISEASE QUANTITATIVE BLOOD TEST COST INR:2562.3

The Quantitative Blood Test is a simple blood test that measures the levels of a specific enzyme called Acid Sphingomyelinase (ASM). In individuals with Niemann-Pick Disease, the ASM enzyme levels are low. This test can help in confirming the diagnosis of Niemann-Pick Disease. The cost of the Quantitative Blood Test for Niemann-Pick Disease in India is INR:2562.3.

CONCLUSION

Niemann-Pick Disease is a rare genetic disorder that can be challenging to diagnose due to its similar symptoms to other diseases. However, with the help of diagnostic tests such as the Quantitative Blood Test, doctors can confirm the diagnosis and provide proper treatment. If you suspect that you or your loved one may have Niemann-Pick Disease, consult with a doctor immediately.

At DNA Labs India, we offer a wide range of genetic testing services, including the Quantitative Blood Test for Niemann-Pick Disease. Our team of experts uses advanced technology to provide accurate and reliable results. Contact us today to learn more about our services.