Short Description

NGS genetic DNA test detecets for variant and mutation detection in CTNS gene for Cystinosis, nephropathic

PreTest Information

Clinical History of Patient who is going for CTNS Gene Cystinosis, nephropathic NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Cystinosis, nephropathic

Detail Description

CTNS Gene Cystinosis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Cystinosis is a rare genetic disorder that affects the body's ability to remove cystine, an amino acid, from cells. This buildup of cystine can cause damage to various organs, including the kidneys, eyes, muscles, and brain. Cystinosis is caused by mutations in the CTNS gene, which provides instructions for making a protein that transports cystine out of cells. When this protein is not functioning correctly, cystine accumulates and causes damage.

Symptoms of Cystinosis

The symptoms of cystinosis can vary depending on the age at which the condition presents itself. In infants, symptoms usually appear within the first year of life and may include:

• Frequent urination
• Excessive thirst
• Dehydration
• Poor weight gain
• Delayed growth
• Constipation

In older children and adults, symptoms may include:

• Photophobia (sensitivity to light)
• Blurred vision
• Corneal crystals
• Muscle weakness
• Hypothyroidism
• Diabetes
• Difficulty swallowing
• Developmental delays

Diagnosis of Cystinosis

Cystinosis can be diagnosed through a variety of tests, including:

• Urinalysis to detect high levels of cystine
• Blood tests to measure cystine levels
• Eye exams to detect corneal crystals
• Genetic testing to detect mutations in the CTNS gene

NGS Genetic DNA Test Cost for CTNS Gene Cystinosis in India

Next-generation sequencing (NGS) is a powerful tool for detecting genetic mutations associated with cystinosis. NGS allows for the simultaneous analysis of multiple genes, including the CTNS gene. The cost of NGS genetic DNA testing for CTNS gene cystinosis in India typically ranges from INR 20,000 to INR 30,000.

Conclusion

Cystinosis is a rare genetic disorder that can cause a range of symptoms, including kidney damage, vision problems, and developmental delays. Early diagnosis and treatment are essential for managing the condition and preventing complications. NGS genetic DNA testing can be a valuable tool for detecting mutations in the CTNS gene and diagnosing cystinosis. If you suspect that you or a loved one may have cystinosis, speak with a genetic counselor or healthcare provider to discuss testing options.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for CTNS gene cystinosis. Contact us today to learn more about our services and how we can help you.