Short Description

Sphingolipidoses are a class of lipid storage disorders relating to sphin- golipid metabolism. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10.000, but substantially more in certain populations such as Ashkenazi Jews.

PreTest Information

Give brief clinical history.

Detail Description

What is Sphingolipidosis Panel 3 Test?

Sphingolipidosis Panel 3 Test is a diagnostic test that helps in detecting the presence of sphingolipidosis in a person. It is a genetic disorder that affects the metabolism of sphingolipids, a type of fat molecule found in the body. The test helps in identifying the specific type of sphingolipidosis a person has, as there are several types of this disorder.

What are the Symptoms of Sphingolipidosis?

The symptoms of sphingolipidosis vary depending on the type of disorder a person has. Some common symptoms include:

• Developmental delay
• Seizures
• Enlarged spleen and liver
• Bone abnormalities
• Difficulty walking
• Blindness or vision problems
• Difficulty swallowing

How is Sphingolipidosis Diagnosed?

Sphingolipidosis is diagnosed through a combination of medical history, physical examination, and laboratory tests. The Sphingolipidosis Panel 3 Test is a genetic test that helps in identifying the specific type of sphingolipidosis a person has. The test is performed on a blood sample, and the results are usually available within a few days.

What is the Cost of the Sphingolipidosis Panel 3 Test?

The cost of the Sphingolipidosis Panel 3 Test in India is INR 7000. This cost may vary depending on the location and the laboratory where the test is performed.

Conclusion

Sphingolipidosis is a rare genetic disorder that can cause a range of symptoms. The Sphingolipidosis Panel 3 Test is an effective way to diagnose this disorder and identify the specific type of sphingolipidosis a person has. If you or someone you know is experiencing symptoms of sphingolipidosis, it is important to speak to a healthcare provider and consider getting tested.

At DNA Labs India, we offer a range of genetic testing services, including the Sphingolipidosis Panel 3 Test. Our team of experienced professionals is committed to providing accurate and reliable testing services at an affordable cost. Contact us today to learn more about our services and how we can help you.

Sphingolipidoses are a class of lipid storage disorders relating to sphin- golipid metabolism. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10.000, but substantially more in certain populations such as Ashkenazi Jews.