Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTSD gene for Ceroid lipofuscinosis neuronal type 10

PreTest Information

Clinical History of Patient who is going for CTSD Gene Ceroid lipofuscinosis neuronal type 10 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Ceroid lipofuscinosis neuronal type 10

Detail Description

CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 NGS Genetic DNA Test: Cost, Symptoms, and Diagnosis

CTSD Gene Ceroid Lipofuscinosis Neuronal Type 10 (CLN10) is a rare genetic disorder that affects the nervous system. It is caused by mutations in the CTSD gene, which provides instructions for making an enzyme called cathepsin D. This enzyme is essential for breaking down and recycling cellular waste in the brain and other tissues.

Individuals with CLN10 have a buildup of lipopigments, which are waste products that accumulate in the brain and other tissues. This buildup leads to the death of nerve cells and eventually causes the symptoms of the disorder.

Symptoms of CLN10

The symptoms of CLN10 usually begin in early childhood and progressively worsen over time. Some of the common symptoms of CLN10 include:

• Vision loss
• Seizures
• Cognitive decline
• Muscle weakness and stiffness
• Speech difficulties

As the disease progresses, individuals with CLN10 may also experience problems with movement, feeding, and breathing.

Diagnosis of CLN10

Diagnosing CLN10 can be challenging because it is a rare disorder and its symptoms are similar to other neurological conditions. However, a genetic test can confirm the diagnosis of CLN10. The most common genetic test used to diagnose CLN10 is Next-Generation Sequencing (NGS) Genetic DNA Test.

NGS Genetic DNA Test is a comprehensive genetic test that analyzes a patient's DNA to look for mutations in the CTSD gene. The test is performed on a blood or saliva sample and can provide a diagnosis within a few weeks.

Cost of CLN10 NGS Genetic DNA Test

The cost of CLN10 NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

CLN10 is a rare genetic disorder that affects the nervous system. Early diagnosis is important for managing the symptoms and providing appropriate care. NGS Genetic DNA Test is an effective tool for diagnosing CLN10 and other genetic disorders. If you or someone you know is experiencing symptoms of CLN10, consult a healthcare professional for further evaluation.

Disclaimer: The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition.

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