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

SPHINGOLIPIDOSIS PANEL 2 Test: Cost, Symptoms, Diagnosis

Sphingolipidoses are a group of inherited metabolic disorders that affect the body's ability to break down sphingolipids, a type of fat molecule found in cell membranes. These disorders are caused by deficiencies in enzymes that are needed to break down sphingolipids. The Sphingolipidosis Panel 2 Test is a diagnostic test that is used to identify these disorders.

Symptoms of Sphingolipidoses

The symptoms of sphingolipidoses can vary depending on the specific disorder, but some common symptoms include:

• Developmental delays
• Muscle weakness
• Seizures
• Enlarged liver and spleen
• Difficulty swallowing
• Loss of vision and hearing
• Intellectual disability

Diagnosis of Sphingolipidoses

Diagnosis of sphingolipidoses involves a combination of clinical examination, laboratory tests, and genetic testing. The Sphingolipidosis Panel 2 Test is a genetic test that can help diagnose sphingolipidoses. This test analyzes the DNA for mutations in genes that are associated with sphingolipidoses. If mutations are found, it confirms the diagnosis of the disorder.

SPHINGOLIPIDOSIS PANEL 2 Test Cost

The cost of the Sphingolipidosis Panel 2 Test in India is INR 5500. This cost may vary depending on the location and the laboratory where the test is being performed. It is important to note that this test may not be covered by insurance and may need to be paid for out of pocket.

Conclusion

The Sphingolipidosis Panel 2 Test is an important diagnostic tool for identifying sphingolipidoses. These disorders can have significant impacts on a person's health and quality of life. If you or a loved one is experiencing symptoms of sphingolipidoses, it is important to speak with a healthcare provider and consider getting tested. The cost of the test may seem high, but it is a small price to pay for the potential benefits of an accurate diagnosis.

At DNA Labs India, we offer a wide range of genetic tests, including the Sphingolipidosis Panel 2 Test. Our team of experts is committed to providing accurate and reliable testing services to our clients. Contact us today to learn more about our services.

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.