Short Description

NGS genetic DNA test detecets for variant and mutation detection in CLCN7 gene for Osteopetrosis, autosomal dominant type 1

PreTest Information

Clinical History of Patient who is going for CLCN7 Gene Osteopetrosis, autosomal dominant type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CLCN7 Gene Osteopetrosis, autosomal dominant type 1 NGS Genetic DNA Test gene CLCN7

Detail Description

CLCN7 Gene Osteopetrosis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Osteopetrosis is a rare genetic disorder that affects the bones. It is caused by mutations in genes that regulate bone formation and resorption. One such gene is the CLCN7 gene, which is responsible for autosomal dominant type 1 osteopetrosis.

What is CLCN7 Gene Osteopetrosis?

CLCN7 gene osteopetrosis is a rare inherited disorder that affects the bones. It is caused by mutations in the CLCN7 gene, which is responsible for the production of a protein called ClC-7. This protein is important for the regulation of bone formation and resorption. Mutations in the CLCN7 gene lead to the accumulation of bone mass, which results in the hardening and thickening of bones.

Symptoms of CLCN7 Gene Osteopetrosis

The symptoms of CLCN7 gene osteopetrosis can vary depending on the severity of the condition. Some of the common symptoms include:

• Frequent fractures
• Delayed growth
• Dental problems
• Hearing loss
• Visual impairments
• Abnormalities in blood cell production

Diagnosis of CLCN7 Gene Osteopetrosis

CLCN7 gene osteopetrosis can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is the most reliable and accurate method for the diagnosis of this condition. This test involves the sequencing of the entire CLCN7 gene to identify any mutations or variations that may be present.

NGS Genetic DNA Test Cost for CLCN7 Gene Osteopetrosis in India

The cost of NGS genetic DNA testing for CLCN7 gene osteopetrosis in India can vary depending on the laboratory and the location. However, on average, the cost of this test can range from INR 20,000 to INR 30,000.

Conclusion

CLCN7 gene osteopetrosis is a rare genetic disorder that affects the bones. It can cause a range of symptoms, including frequent fractures, delayed growth, and dental problems. The most reliable method for the diagnosis of this condition is through NGS genetic DNA testing, which can cost between INR 20,000 to INR 30,000 in India.

If you suspect that you or your child may have CLCN7 gene osteopetrosis, it is important to consult with a genetic counselor or healthcare provider to discuss testing options and treatment options.