Short Description

NGS genetic DNA test detecets for variant and mutation detection in CEP290 gene for Senior-Loken syndrome type 6

PreTest Information

Clinical History of Patient who is going for CEP290 Gene Senior-Loken syndrome type 6 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CEP290 Gene Senior-Loken syndrome type 6 NGS Genetic DNA Test gene CEP290

Detail Description

CEP290 Gene Senior-Loken Syndrome Type 6 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

Senior-Loken syndrome type 6 is a rare genetic disorder that affects both the eyes and kidneys. It is caused by a mutation in the CEP290 gene. The CEP290 gene provides instructions for making a protein that is important for the normal function of cilia, which are tiny, hair-like structures that line the respiratory tract, brain, and other organs. Cilia play a crucial role in the movement of fluids and substances across cells. When the CEP290 gene is mutated, cilia function is impaired, leading to a variety of symptoms.

Symptoms of Senior-Loken Syndrome Type 6

The symptoms of Senior-Loken syndrome type 6 can vary widely from person to person. The most common symptoms include:

• Vision problems, including blindness and difficulty seeing in low light
• Kidney problems, including kidney failure and the presence of protein in the urine
• Retinal degeneration, which can lead to a loss of peripheral vision
• Anemia, which is a lack of red blood cells

Diagnosis of Senior-Loken Syndrome Type 6

Diagnosing Senior-Loken syndrome type 6 can be challenging due to the variability of symptoms. A complete medical history, physical examination, and laboratory tests are typically done to rule out other conditions. Genetic testing is the most reliable way to diagnose Senior-Loken syndrome type 6. Specifically, next-generation sequencing (NGS) genetic DNA testing can identify mutations in the CEP290 gene.

CEP290 Gene Senior-Loken Syndrome Type 6 NGS Genetic DNA Test Cost INR: 20000

DNA Labs India offers CEP290 gene Senior-Loken syndrome type 6 NGS genetic DNA testing for INR 20000. This test can be performed on a blood or saliva sample and is highly accurate in identifying mutations in the CEP290 gene. The test results can help confirm a diagnosis of Senior-Loken syndrome type 6 and guide treatment decisions.

Conclusion

Senior-Loken syndrome type 6 is a rare genetic disorder that can cause vision and kidney problems. Genetic testing, specifically NGS genetic DNA testing, can help diagnose the condition and guide treatment decisions. DNA Labs India offers CEP290 gene Senior-Loken syndrome type 6 NGS genetic DNA testing for INR 20000.

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