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TMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic DNA Test Cost 20000 Rs
TMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic DNA Test Details
TMEM38B Gene and Osteogenesis Imperfecta Type 14: Understanding the Genetic DNA Test Cost and Diagnosis
Osteogenesis Imperfecta (OI) is a rare genetic disorder that affects the bones, causing them to be brittle and prone to fractures. It is caused by mutations in several genes, including the TMEM38B gene, which is responsible for OI type 14. In this blog, we will discuss the symptoms, diagnosis, and genetic DNA test cost for TMEM38B gene-related OI.
Symptoms of TMEM38B Gene-related OI
TMEM38B gene-related OI is a rare form of OI that is caused by mutations in the TMEM38B gene. The symptoms of this type of OI may include:
- Frequent fractures, especially in the long bones of the arms and legs
- Short stature
- Bowed legs and arms
- Scoliosis (curvature of the spine)
- Loose joints and ligaments
- Blue sclera (the white part of the eyes appears blue)
- Dental problems, such as brittle teeth
It is important to note that the severity of symptoms can vary widely among individuals with TMEM38B gene-related OI. Some people may have only a few fractures throughout their lifetime, while others may experience multiple fractures each year.
Diagnosis of TMEM38B Gene-related OI
The diagnosis of TMEM38B gene-related OI is typically made through a combination of clinical evaluation, medical history, and genetic testing. A doctor will perform a physical exam and may order imaging tests, such as X-rays or bone density scans, to evaluate the bones for signs of OI.
If OI is suspected, genetic testing may be recommended to confirm the diagnosis and determine the specific type of OI. Genetic testing involves analyzing a sample of the patient's DNA for mutations in the TMEM38B gene. This can be done using a variety of methods, including next-generation sequencing (NGS).
NGS Genetic DNA Test Cost for TMEM38B Gene-related OI
The cost of genetic testing for TMEM38B gene-related OI can vary depending on the specific test and the laboratory performing the test. In India, the cost of NGS genetic testing for TMEM38B gene-related OI typically ranges from INR 15,000 to INR 25,000.
It is important to note that genetic testing for TMEM38B gene-related OI may not be covered by insurance, and patients should check with their insurance provider before undergoing testing.
Conclusion
TMEM38B gene-related OI is a rare form of OI that is caused by mutations in the TMEM38B gene. Symptoms may include frequent fractures, short stature, and dental problems. Diagnosis is typically made through a combination of clinical evaluation, medical history, and genetic testing. NGS genetic testing for TMEM38B gene-related OI typically costs INR 15,000 to INR 25,000. If you suspect that you or a loved one may have TMEM38B gene-related OI, it is important to speak with a doctor and consider genetic testing to confirm the diagnosis.
At DNA Labs India, we offer NGS genetic testing for a variety of genetic disorders, including TMEM38B gene-related OI. Our testing is accurate, reliable, and cost-effective. Contact us today to learn more about our genetic testing services.
