Short Description

Lysosomal Storage Disorder Gene Panel is performed using NGS methodology. Sample that have to be given is Amniotic fluid/ Chorionic villi/ Peripheral blood in Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer(3 ml) for this test. You can expect results in 4-6 weeks

PreTest Information

Lysosomal Storage Disorder Gene Panel can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Lysosomal Storage Disorder Gene Panel Cost: INR 36,000 - Symptoms, Diagnosis

Lysosomal Storage Disorders (LSDs) are a group of inherited metabolic disorders that affect the function of lysosomes. Lysosomes are responsible for breaking down waste materials in the body, and when they don't function properly, it can lead to a buildup of these materials in the body's tissues and organs.

Symptoms of LSDs

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

• Developmental delays
• Enlarged liver and spleen
• Seizures
• Behavioral problems
• Loss of motor skills
• Blindness or vision problems
• Intellectual disability

Diagnosis of LSDs

Diagnosis of LSDs can be challenging as the symptoms can be similar to other conditions. However, there are a few tests that can help diagnose LSDs:

• Blood tests to measure enzyme levels
• Genetic testing to look for mutations in specific genes
• Urine tests to look for abnormal metabolites
• Biopsy of affected tissues

Lysosomal Storage Disorder Gene Panel Test

A Lysosomal Storage Disorder Gene Panel is a genetic test that can help diagnose LSDs. The test looks for mutations in multiple genes that are associated with LSDs. The test can be performed on a blood or saliva sample and results are typically available within a few weeks.

Cost of Lysosomal Storage Disorder Gene Panel Test

The cost of the Lysosomal Storage Disorder Gene Panel Test in India is INR 36,000.

Conclusion

Lysosomal Storage Disorders are a group of inherited metabolic disorders that can lead to a range of symptoms. Diagnosis can be challenging, but a Lysosomal Storage Disorder Gene Panel Test can help identify mutations in multiple genes associated with LSDs. The cost of the test in India is INR 36,000.

If you suspect that you or a loved one may have an LSD, it is important to speak with a healthcare provider for further evaluation and testing.

For more information about genetic testing and DNA Labs India, visit our website.