Senior-Loken Syndrome Type 7 is a rare genetic disorder that affects the kidneys and eyes. It is caused by mutations in the SDCCAG8 gene, which provides instructions for making a protein that is essential for the development and function of cilia. Cilia are microscopic, hair-like structures that project from the surface of cells and play important roles in the movement of fluids and the detection of sensory stimuli.

Symptoms

The symptoms of Senior-Loken Syndrome Type 7 usually appear in childhood and may include:

• Retinal degeneration
• Nephronophthisis (a kidney disease that causes scarring and cysts in the kidneys)
• Polydactyly (extra fingers or toes)
• Liver fibrosis
• Intellectual disability
• Developmental delay

Diagnosis

Senior-Loken Syndrome Type 7 can be diagnosed through genetic testing, which looks for mutations in the SDCCAG8 gene. This can be done through a Next Generation Sequencing (NGS) Genetic DNA Test, which analyzes the entire gene and can detect even rare mutations. This test is available at DNA Labs India.

Cost

The cost of the NGS Genetic DNA Test for SDCCAG8 gene at DNA Labs India is INR 20,000.

Conclusion

Senior-Loken Syndrome Type 7 is a rare genetic disorder that affects the kidneys and eyes. It can be diagnosed through genetic testing, such as the NGS Genetic DNA Test for SDCCAG8 gene, which is available at DNA Labs India. If you suspect that you or a loved one may have this condition, it is important to seek medical advice and genetic counseling.