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 CTNS Gene Cystinosis, nephropathic NGS Genetic DNA Test gene CTNS

Detail Description

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

Cystinosis is a rare genetic disorder that affects the body's ability to transport cystine, a naturally occurring amino acid, from the lysosomes to the cytoplasm. The condition is caused by mutations in the CTNS gene, which provides instructions for producing a protein called cystinosin. CTNS gene cystinosis is also known as nephropathic cystinosis, as it primarily affects the kidneys.

Symptoms of CTNS Gene Cystinosis

The symptoms of CTNS gene cystinosis vary depending on the severity of the condition. The first signs of the disorder usually appear in infancy or early childhood and may include:

• Poor growth
• Frequent urination
• Excessive thirst
• Dehydration
• Weak bones
• Photophobia (sensitivity to light)
• Eye damage
• Chronic kidney disease

As the condition progresses, it can lead to:

• Renal Fanconi syndrome, which affects the body's ability to absorb nutrients
• Kidney failure
• Diabetes
• Thyroid problems
• Difficulty swallowing
• Respiratory problems
• Neurological problems

Diagnosis of CTNS Gene Cystinosis

The diagnosis of CTNS gene cystinosis involves a combination of clinical evaluation, laboratory tests, and genetic testing. A doctor may suspect cystinosis based on the child's symptoms, family history, and physical examination. Blood and urine tests may be conducted to measure cystine levels in the body.

Genetic testing is the most definitive way to diagnose CTNS gene cystinosis. A genetic test can detect mutations in the CTNS gene that are responsible for the disorder. The test can be performed on a blood sample or a swab of cells from the inside of the cheek.

NGS Genetic DNA Test Cost for CTNS Gene Cystinosis

The cost of NGS genetic DNA testing for CTNS gene cystinosis in India is around INR 20,000. NGS stands for next-generation sequencing, which is a high-throughput DNA sequencing technology that allows for the analysis of multiple genes simultaneously. NGS genetic DNA testing can identify mutations in the CTNS gene that are responsible for cystinosis with a high degree of accuracy.

Conclusion

CTNS gene cystinosis is a rare genetic disorder that primarily affects the kidneys. The condition is caused by mutations in the CTNS gene, which provides instructions for producing a protein called cystinosin. The symptoms of CTNS gene cystinosis vary depending on the severity of the condition, but they usually appear in infancy or early childhood. The diagnosis of CTNS gene cystinosis involves a combination of clinical evaluation, laboratory tests, and genetic testing. NGS genetic DNA testing for CTNS gene cystinosis in India costs around INR 20,000.

If you suspect that you or your child may have CTNS gene cystinosis, it is important to consult a doctor and undergo appropriate testing. Early diagnosis and treatment can help to manage the symptoms of the condition and improve long-term outcomes.