Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNAJC5 gene for Ceroid lipofuscinosis neuronal type 4

PreTest Information

Clinical History of Patient who is going for DNAJC5 Gene Ceroid lipofuscinosis neuronal type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 4

Detail Description

DNAJC5 Gene Ceroid Lipofuscinosis Neuronal Type 4 NGS Genetic DNA Test: Symptoms, Diagnosis and Cost

DNAJC5 gene ceroid lipofuscinosis neuronal type 4 (CLN4) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the DNAJC5 gene, which provides instructions for making a protein called cysteine-string protein alpha (CSPα). This protein is important for the normal functioning of nerve cells in the brain and spinal cord.

Symptoms of CLN4

The symptoms of CLN4 can vary widely, but often include:

• Seizures
• Loss of muscle control
• Visual impairment
• Behavioral changes
• Dementia
• Speech problems

These symptoms usually begin in childhood, typically between the ages of 4 and 7. The disease is progressive, meaning that symptoms worsen over time, and it often leads to premature death.

Diagnosis of CLN4

Diagnosing CLN4 can be challenging because it is a rare disease and symptoms can be similar to those of other neurological disorders. However, doctors may use a combination of tests to diagnose CLN4, including:

• Physical exam
• Medical history
• Neurological exam
• Electroencephalogram (EEG)
• Magnetic resonance imaging (MRI)
• Genetic testing, such as NGS genetic DNA testing

NGS Genetic DNA Test for CLN4

Next-generation sequencing (NGS) genetic DNA testing is a powerful tool for diagnosing CLN4. This type of testing can analyze multiple genes simultaneously, including the DNAJC5 gene, which is responsible for CLN4. NGS genetic DNA testing can provide a definitive diagnosis of CLN4, which can help doctors develop an appropriate treatment plan.

Cost of NGS Genetic DNA Test for CLN4

The cost of NGS genetic DNA testing for CLN4 can vary depending on the provider, location, and other factors. In India, the cost of NGS genetic DNA testing for CLN4 is typically around INR 20,000. However, it is important to check with the provider to confirm the cost and any additional fees that may apply.

Conclusion

CLN4 is a rare genetic disorder that can cause a range of neurological symptoms. NGS genetic DNA testing can provide a definitive diagnosis of CLN4, which can help doctors develop an appropriate treatment plan. The cost of NGS genetic DNA testing for CLN4 in India is typically around INR 20,000. If you or a loved one is experiencing symptoms of CLN4, it is important to speak with a doctor as soon as possible.

At DNA Labs India, we offer NGS genetic DNA testing for CLN4 and other genetic disorders. Our testing is accurate, reliable, and affordable, and our team of experts is dedicated to helping you get the answers you need. Contact us today to learn more.