Short Description

NGS genetic DNA test detecets for variant and mutation detection in TNFRSF11A gene for Osteopetrosis, autosomal recessive type 7

PreTest Information

Clinical History of Patient who is going for TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 NGS Genetic DNA Test gene TNFRSF11A

Detail Description

Understanding TNFRSF11A Gene Osteopetrosis: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

Osteopetrosis is a group of rare genetic disorders characterized by the abnormal hardening or thickening of bones, making them brittle and prone to fractures. Autosomal recessive type 7 (ARO7) osteopetrosis is caused by mutations in the TNFRSF11A gene and is one of the rarest forms of the disease. In this blog, we will discuss the symptoms, diagnosis, and cost of NGS genetic DNA test for TNFRSF11A Gene Osteopetrosis in India.

Symptoms of TNFRSF11A Gene Osteopetrosis

The symptoms of ARO7 osteopetrosis can vary widely, depending on the severity of the disease and the age of onset. Some of the common symptoms include:

• Frequent fractures and bone pain
• Delayed tooth eruption and dental problems
• Abnormal curvature of the spine (scoliosis)
• Short stature and delayed growth
• Anemia and other blood-related problems
• Optic atrophy and vision problems

These symptoms may appear in infancy or childhood and can progressively worsen over time. In severe cases, ARO7 osteopetrosis can be life-threatening, as it can affect the development and function of vital organs, such as the brain and lungs.

Diagnosis of TNFRSF11A Gene Osteopetrosis

ARO7 osteopetrosis is diagnosed based on a combination of clinical symptoms, radiographic imaging, and genetic testing. X-rays and CT scans can reveal the characteristic thickening of bones and other skeletal abnormalities associated with the disease.

However, genetic testing is the most accurate and reliable method for diagnosing ARO7 osteopetrosis. The TNFRSF11A gene is responsible for producing a protein called RANK, which plays a crucial role in bone remodeling and maintenance. Mutations in this gene can disrupt the normal bone development and lead to osteopetrosis.

NGS (Next Generation Sequencing) genetic DNA test is a cutting-edge technology that can sequence the entire TNFRSF11A gene quickly and accurately. This test can detect even the smallest genetic variations or mutations that may be responsible for ARO7 osteopetrosis.

NGS Genetic DNA Test Cost for TNFRSF11A Gene Osteopetrosis in India

The cost of NGS genetic DNA test for TNFRSF11A Gene Osteopetrosis in India can vary depending on the laboratory and location. On average, the cost of this test in India is around INR 20,000.

However, it is important to note that genetic testing is not covered by most insurance policies in India. Patients may have to bear the cost of testing out of their pocket. It is advisable to consult with a genetic counselor or healthcare provider before undergoing genetic testing to understand the benefits, risks, and costs involved.

Conclusion

TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 is a rare genetic disorder that can cause severe bone and other health problems. Early diagnosis and genetic testing can help in the proper management and treatment of the disease. If you or your loved one is experiencing symptoms of osteopetrosis, consult with a healthcare provider or genetic counselor to discuss the possibility of genetic testing.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 NGS Genetic DNA Test