Short Description

NGS genetic DNA test detecets for variant and mutation detection in PPT1 gene for Ceroid lipofuscinosis neuronal type 1

PreTest Information

Clinical History of Patient who is going for PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 1

Detail Description

PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Ceroid lipofuscinosis neuronal type 1 (CLN1) is a rare genetic disorder that affects the nervous system. It is caused by a mutation in the PPT1 gene, which is responsible for producing an enzyme that breaks down certain fats in the brain. When this enzyme is not produced, fats accumulate in the brain, leading to neurological symptoms such as seizures, developmental delay, and vision loss.

Symptoms of CLN1

The symptoms of CLN1 usually begin in infancy or early childhood and progressively worsen over time. The most common symptoms include:

• Seizures
• Developmental delay
• Vision loss
• Loss of motor skills
• Muscle stiffness or rigidity
• Behavioral changes
• Difficulty swallowing

Diagnosis of CLN1

CLN1 can be diagnosed through genetic testing. A blood or saliva sample is taken from the patient and analyzed for mutations in the PPT1 gene. If a mutation is found, the patient is diagnosed with CLN1.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for CLN1 in India is typically around INR 20000. The cost may vary depending on the laboratory and the specific tests performed.

Conclusion

CLN1 is a rare genetic disorder that affects the nervous system. It can be diagnosed through genetic testing, which typically costs around INR 20000 in India. If you or a loved one are experiencing symptoms of CLN1, it is important to speak with a healthcare professional and undergo genetic testing to receive an accurate diagnosis.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for CLN1. Our team of experts is dedicated to providing accurate and reliable testing to help patients receive the care and treatment they need. Contact us today to learn more about our services and how we can help you.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic DNA Test