Short Description

Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid 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 1 Test: Symptoms, Diagnosis, and Cost

SPHINGOLIPIDOSIS PANEL 1 is a genetic test that can diagnose certain types of rare inherited disorders called sphingolipidoses. These disorders are caused by the body's inability to break down certain fats called sphingolipids. There are several different types of sphingolipidoses, each caused by a different enzyme deficiency. Symptoms can vary depending on the type of sphingolipidosis, but they often include developmental delays, seizures, and vision problems.

Symptoms

The symptoms of sphingolipidoses can vary depending on the type of disorder. Some common symptoms include:

• Developmental delays
• Seizures
• Loss of motor skills
• Enlarged liver and spleen
• Difficulty swallowing
• Difficulty speaking
• Vision problems
• Hearing loss
• Abnormal bone development

Diagnosis

Diagnosis of sphingolipidoses can be difficult, as the symptoms can be similar to other disorders. A sphingolipidosis panel 1 genetic test can help diagnose these disorders by analyzing a person's DNA for mutations in the genes that code for the enzymes involved in sphingolipid metabolism. This test can detect mutations in the following genes:

• ASAH1
• CLN3
• GBA
• GNS
• HEXA
• NEU1
• PPCA
• PSAP
• SGSH

If mutations are detected, a diagnosis of sphingolipidosis can be made. It is important to note that not all mutations in these genes will result in sphingolipidosis, and that a negative test result does not necessarily rule out the possibility of the disorder.

Cost

The cost of the sphingolipidosis panel 1 genetic test in India is approximately INR 12,000. This cost may vary depending on the testing facility and any additional fees that may be associated with the test. It is important to check with your healthcare provider or the testing facility to determine the exact cost of the test.

Conclusion

Sphingolipidoses are rare inherited disorders that can cause a variety of symptoms. Diagnosis can be difficult, but a sphingolipidosis panel 1 genetic test can help identify mutations in genes associated with these disorders. The cost of the test in India is approximately INR 12,000. If you or a loved one are experiencing symptoms of sphingolipidosis, it is important to speak with a healthcare provider to determine the appropriate course of action.

Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid 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.