Short Description

NGS genetic DNA test detecets for variant and mutation detection in TNFSF11 gene for Osteopetrosis, autosomal recessive type 2

PreTest Information

Clinical History of Patient who is going for TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic DNA Test gene TNFSF11

Detail Description

TNFSF11 Gene and Osteopetrosis: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Osteopetrosis is a rare genetic disorder that affects bone development and leads to abnormal bone growth. It is caused by mutations in various genes that are involved in bone remodeling and maintenance. One of the genes implicated in osteopetrosis is TNFSF11, which codes for a protein called RANK ligand. Mutations in this gene can lead to autosomal recessive type 2 osteopetrosis, a severe form of the disease that affects infants and young children. In this blog, we will discuss the symptoms, diagnosis, and NGS genetic DNA test cost associated with TNFSF11 gene-related osteopetrosis.

Symptoms of TNFSF11 Gene-Related Osteopetrosis

The symptoms of autosomal recessive type 2 osteopetrosis can vary depending on the severity of the disease. Infants and young children with the condition may have:

• Delayed motor development
• Failure to thrive
• Recurrent infections
• Bone fractures
• Deafness or hearing loss
• Vision problems

As the disease progresses, it can lead to bone marrow failure, which can cause anemia, low platelet counts, and a weakened immune system. Some individuals with osteopetrosis may also develop neurological problems, such as hydrocephalus or seizures.

Diagnosis of TNFSF11 Gene-Related Osteopetrosis

Osteopetrosis can be diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. X-rays and CT scans can show the characteristic bone abnormalities associated with the disease, such as thickened bones and reduced bone marrow space. Blood tests can also reveal abnormal blood cell counts and low vitamin D levels.

Genetic testing is the most definitive way to diagnose osteopetrosis and identify the underlying genetic mutation. NGS genetic DNA testing can sequence the entire TNFSF11 gene and detect mutations that are associated with osteopetrosis. This type of testing can also identify carriers of the mutation, who may not have symptoms but can pass the mutation on to their children.

NGS Genetic DNA Test Cost for TNFSF11 Gene-Related Osteopetrosis

The cost of NGS genetic DNA testing for TNFSF11 gene-related osteopetrosis in India is around INR 20,000. This cost may vary depending on the specific testing facility and the extent of testing required. Some insurance plans may cover the cost of genetic testing if it is deemed medically necessary.

It is important to note that genetic testing is not always necessary for a diagnosis of osteopetrosis. Other diagnostic tests, such as imaging studies and blood tests, can provide valuable information about the disease. However, genetic testing can be useful for confirming a diagnosis, identifying carriers, and providing information about the risk of recurrence in future pregnancies.

Conclusion

TNFSF11 gene-related osteopetrosis is a rare genetic disorder that can cause severe bone abnormalities and other health problems. Genetic testing can be a valuable tool for diagnosing the disease, identifying carriers, and providing information about the risk of recurrence. If you or someone you know is experiencing symptoms of osteopetrosis, it is important to seek medical attention and consider genetic testing as part of the diagnostic process.

At DNA Labs India, we offer NGS genetic DNA testing for TNFSF11 gene-related osteopetrosis and other genetic disorders. Our state-of-the-art testing facilities and experienced genetic counselors can provide you with the information and support you need to make informed decisions about your health. Contact us today to learn more about our genetic testing services.