Short Description

NGS genetic DNA test detecets for variant and mutation detection in TPP1 gene for Ceroid lipofuscinosis neuronal type 2

PreTest Information

Clinical History of Patient who is going for TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 2

Detail Description

TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic DNA Test - DNA Labs India

Ceroid lipofuscinosis neuronal type 2 (CLN2) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the TPP1 gene, which encodes the enzyme tripeptidyl peptidase 1. This enzyme is responsible for breaking down certain proteins in the brain, and mutations in the gene lead to the accumulation of these proteins, which can cause damage to brain cells.

CLN2 usually begins in early childhood, and symptoms include seizures, loss of motor skills, and cognitive decline. Without treatment, the disease is fatal, usually by the age of 12.

NGS Genetic DNA Test for TPP1 Gene Ceroid lipofuscinosis neuronal type 2

DNA Labs India offers a comprehensive NGS Genetic DNA Test for TPP1 Gene Ceroid lipofuscinosis neuronal type 2. This test can help diagnose the disease and identify carriers of the mutation.

The cost of the test is INR 20,000, and results are available within 3-4 weeks.

Symptoms of TPP1 Gene Ceroid lipofuscinosis neuronal type 2

• Seizures
• Loss of motor skills
• Cognitive decline
• Visual impairment
• Speech difficulties
• Behavioral changes

Diagnosis of TPP1 Gene Ceroid lipofuscinosis neuronal type 2

Diagnosis of CLN2 is usually based on clinical symptoms and genetic testing. The NGS Genetic DNA Test offered by DNA Labs India can identify mutations in the TPP1 gene and confirm a diagnosis of CLN2.

Early diagnosis is important for the management of the disease, as treatment can slow the progression of symptoms and improve quality of life.

Conclusion

TPP1 Gene Ceroid lipofuscinosis neuronal type 2 is a rare genetic disorder that affects the nervous system. DNA Labs India offers a comprehensive NGS Genetic DNA Test for the disease, which can help diagnose the disease and identify carriers of the mutation. Early diagnosis is important for the management of the disease, and the test results are available within 3-4 weeks at an affordable cost of INR 20,000.

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 TPP1 Gene Ceroid lipofuscinosis neuronal type 2 NGS Genetic DNA Test