Short Description

NGS genetic DNA test detecets for variant and mutation detection in CLN8 gene for Ceroid lipofuscinosis neuronal type 8

PreTest Information

Clinical History of Patient who is going for CLN8 Gene Ceroid lipofuscinosis neuronal type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 8

Detail Description

CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 NGS Genetic DNA Test

CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 is a rare genetic disorder that affects the nervous system and causes a progressive decline in cognitive and motor function. This disease is caused by mutations in the CLN8 gene, which leads to the accumulation of lipofuscin in the brain and other tissues.

Symptoms of CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8

The symptoms of CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 typically appear in childhood and worsen over time. The early symptoms of the disease include:

• Developmental delays
• Seizures
• Loss of muscle tone
• Speech difficulties
• Visual impairment

As the disease progresses, the symptoms become more severe and can include:

• Muscle spasms
• Difficulty swallowing
• Loss of mobility
• Dementia
• Blindness

Diagnosis of CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8

Diagnosis of CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 is typically made through a combination of clinical evaluation, genetic testing, and imaging studies. The genetic test involves analyzing the DNA of the patient for mutations in the CLN8 gene. Imaging studies, such as MRI or CT scans, can help identify the presence of lipofuscin in the brain.

NGS Genetic DNA Test for CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8

Next-generation sequencing (NGS) is a powerful tool for identifying mutations in the CLN8 gene. This test can detect mutations in the gene with a high degree of accuracy, allowing for early diagnosis and treatment. The cost of the NGS Genetic DNA Test for CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 in India is INR 20,000.

Conclusion

CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 is a rare genetic disorder that affects the nervous system. Early diagnosis and treatment are essential for managing the symptoms of the disease and improving the quality of life for patients. The NGS Genetic DNA Test for CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 is an effective tool for identifying mutations in the CLN8 gene and is available at DNA Labs India for INR 20,000.

If you or a loved one are experiencing symptoms of CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8, it is important to seek medical attention and genetic testing as soon as possible.

Contact DNA Labs India to learn more about the NGS Genetic DNA Test for CLN8 Gene Ceroid Lipofuscinosis Neuronal Type 8 and other genetic testing services.

Remember that early detection and treatment can make a significant difference in the management of genetic disorders.

Visit our website to learn more about our genetic testing services and how we can help you.