Short Description

NGS genetic DNA test detecets for variant and mutation detection in CLCN7 gene for Osteopetrosis, autosomal recessive type 4

PreTest Information

Clinical History of Patient who is going for CLCN7 Gene Osteopetrosis, autosomal recessive type 4 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CLCN7 Gene Osteopetrosis, autosomal recessive type 4 NGS Genetic DNA Test gene CLCN7

Detail Description

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

Osteopetrosis, also known as marble bone disease, is a rare genetic disorder that affects the bones. It is caused by mutations in genes that regulate the formation and breakdown of bone tissue. Osteopetrosis can be divided into different types based on the mode of inheritance. One such type is autosomal recessive type 4, which is caused by mutations in the CLCN7 gene.

Symptoms of CLCN7 Gene Osteopetrosis

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

• Delayed growth and development
• Fractures
• Anemia
• Infections
• Visual and hearing impairment
• Enlarged liver and spleen
• Neurological problems

People with severe forms of osteopetrosis may have a shortened lifespan due to complications from the disease.

Diagnosis of CLCN7 Gene Osteopetrosis

CLCN7 gene osteopetrosis can be diagnosed through genetic testing. A NGS (Next Generation Sequencing) genetic DNA test can identify mutations in the CLCN7 gene. This test is highly accurate and can detect mutations that may not be detectable through other forms of genetic testing.

In addition to genetic testing, doctors may also use imaging tests such as X-rays, CT scans, and MRI scans to evaluate the bones and determine the severity of the disease.

NGS Genetic DNA Test Cost for CLCN7 Gene Osteopetrosis

The cost of an NGS genetic DNA test for CLCN7 gene osteopetrosis in India typically ranges from INR 15,000 to INR 25,000. The exact cost may vary depending on the laboratory and the specific tests ordered.

It is important to note that genetic testing may not be covered by insurance, so patients should check with their insurance provider to determine their coverage.

Conclusion

CLCN7 gene osteopetrosis is a rare genetic disorder that can cause a range of symptoms including delayed growth and development, fractures, anemia, and infections. Genetic testing through NGS genetic DNA testing can accurately diagnose the disease, and the cost of testing typically ranges from INR 15,000 to INR 25,000.

If you or a loved one are experiencing symptoms of CLCN7 gene osteopetrosis, it is important to speak with a healthcare professional about genetic testing and treatment options.