Short Description

NGS genetic DNA test detecets for variant and mutation detection in CSTB gene for Unverricht-Lundborg disease

PreTest Information

Clinical History of Patient who is going for CSTB Gene Unverricht-Lundborg disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CSTB Gene Unverricht-Lundborg disease

Detail Description

CSTB Gene Unverricht-Lundborg Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Unverricht-Lundborg disease (ULD) is a rare genetic disorder that is characterized by recurrent seizures, progressive myoclonus epilepsy, and ataxia. The disorder is caused by mutations in the CSTB gene, which encodes for a protein called cystatin B. This protein plays a role in regulating the activity of enzymes that break down proteins in the brain.

If you or someone you know has been diagnosed with ULD, it is important to get a genetic test to identify the specific mutation in the CSTB gene. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for ULD at a cost of INR 20,000.

Symptoms of Unverricht-Lundborg Disease

The symptoms of ULD usually begin in childhood or adolescence and progress over time. The most common symptoms include:

• Recurrent seizures
• Myoclonus (sudden, brief muscle jerks)
• Ataxia (loss of coordination and balance)
• Cognitive impairment
• Behavioral changes
• Sensory loss
• Muscle weakness

Diagnosis of Unverricht-Lundborg Disease

Diagnosing ULD can be challenging because the symptoms are similar to other types of epilepsy and ataxia. A diagnosis is usually based on a combination of clinical symptoms, EEG recordings, and genetic testing.

The NGS Genetic DNA Test offered by DNA Labs India can identify mutations in the CSTB gene that are associated with ULD. This test is highly accurate and can confirm a diagnosis of ULD in individuals with clinical symptoms.

Cost of NGS Genetic DNA Test for Unverricht-Lundborg Disease

The cost of the NGS Genetic DNA Test for ULD at DNA Labs India is INR 20,000. This includes the cost of the test kit, sample collection, DNA sequencing, and interpretation of the results.

The test can be ordered online or through a healthcare provider. Once the test is ordered, a sample collection kit will be sent to the individual or healthcare provider. The sample can be collected at home or in a healthcare setting, and then sent back to DNA Labs India for analysis.

Conclusion

If you or someone you know has symptoms of Unverricht-Lundborg disease, it is important to get a genetic test to confirm the diagnosis. The NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and affordable option for identifying mutations in the CSTB gene. Early diagnosis and treatment can help improve outcomes and quality of life for individuals with ULD.

Contact DNA Labs India today to learn more about the NGS Genetic DNA Test for Unverricht-Lundborg Disease.