Short Description

NGS genetic DNA test detecets for variant and mutation detection in CLN5 gene for Ceroid lipofuscinosis neuronal type 5

PreTest Information

Clinical History of Patient who is going for CLN5 Gene Ceroid lipofuscinosis neuronal type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 5

Detail Description

CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 NGS Genetic DNA Test Cost INR: 20,000 Symptoms Diagnosis

CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 is a rare genetic disorder that affects the nervous system. It is caused by mutations in the CLN5 gene which produces a protein that helps to break down waste products in cells. When this protein is not produced, waste products build up and cause damage to nerve cells in the brain and spinal cord. The symptoms of CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 usually appear in childhood and progress over time.

Symptoms of CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5

The symptoms of CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 can vary depending on the individual. However, some of the common symptoms include:

• Seizures
• Loss of muscle coordination (ataxia)
• Vision loss
• Cognitive decline
• Speech difficulties
• Behavioral changes

Diagnosis of CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5

Diagnosis of CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 is done through genetic testing. A small sample of blood or saliva is collected and sent to a laboratory for analysis. Next-generation sequencing (NGS) technology is used to analyze the DNA and identify any mutations in the CLN5 gene. If a mutation is found, it confirms the diagnosis of CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5.

NGS Genetic DNA Test Cost INR: 20,000

The cost of an NGS genetic DNA test for CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 in India is approximately INR 20,000. This cost may vary depending on the laboratory and location.

Treatment of CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5

Unfortunately, there is currently no cure for CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5. Treatment is focused on managing the symptoms and improving quality of life. This may include medications to control seizures and physical and occupational therapy to improve mobility and coordination.

Conclusion

CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5 is a rare genetic disorder that affects the nervous system. It can cause a range of symptoms including seizures, vision loss, and cognitive decline. Diagnosis is done through genetic testing using NGS technology. While there is currently no cure for this disorder, treatment can help manage symptoms and improve quality of life. If you suspect that you or a loved one may have CLN5 Gene Ceroid Lipofuscinosis Neuronal Type 5, it is important to speak with a healthcare professional for guidance.