Short Description

NGS genetic DNA test detecets for variant and mutation detection in SP7 gene for Osteogenesis imperfecta type 12

PreTest Information

Clinical History of Patient who is going for SP7 Gene Osteogenesis imperfecta type 12 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SP7 Gene Osteogenesis imperfecta type 12 NGS Genetic DNA Test gene SP7

Detail Description

SP7 Gene Osteogenesis Imperfecta Type 12 NGS Genetic DNA Test

Osteogenesis Imperfecta (OI) is a genetic disorder that affects the bones, causing them to be brittle and prone to fractures. There are several types of OI, and each one is caused by a different gene mutation. One of the less common types of OI is Type 12, which is caused by a mutation in the SP7 gene. DNA Labs India offers an NGS Genetic DNA Test for the SP7 Gene Osteogenesis Imperfecta Type 12 at a cost of INR 20,000.

Symptoms of Osteogenesis Imperfecta Type 12

The symptoms of OI Type 12 can vary widely from person to person, but some common symptoms include:

• Brittle bones that fracture easily
• Short stature
• Weak muscles
• Joint laxity
• Blue sclera (the white part of the eye appears blue)
• Dental problems

Diagnosing Osteogenesis Imperfecta Type 12

Diagnosing OI Type 12 can be difficult, as the symptoms can be similar to other types of OI. However, a genetic test can confirm whether or not a person has a mutation in the SP7 gene. This test can be performed using a blood or saliva sample.

NGS Genetic DNA Test for SP7 Gene Osteogenesis Imperfecta Type 12

DNA Labs India offers an NGS Genetic DNA Test for SP7 Gene Osteogenesis Imperfecta Type 12. This test uses Next Generation Sequencing (NGS) technology to analyze a person's DNA and detect any mutations in the SP7 gene. The test is highly accurate and can detect even small mutations that may be missed by other types of genetic tests. The cost of the test is INR 20,000.

Why Get Tested?

If you or a loved one has symptoms of OI Type 12, getting tested can provide a definitive diagnosis. This can help with treatment and management of the condition, as well as providing information about the risk of passing the condition on to future generations. Additionally, if you are planning to have children, knowing whether or not you carry a mutation in the SP7 gene can help you make informed decisions about family planning.

Conclusion

Osteogenesis Imperfecta Type 12 is a rare genetic disorder that can cause brittle bones and other symptoms. DNA Labs India offers an NGS Genetic DNA Test for SP7 Gene Osteogenesis Imperfecta Type 12 at a cost of INR 20,000. If you or a loved one has symptoms of OI Type 12, getting tested can provide a definitive diagnosis and help with treatment and management of the condition.

Additionally, if you are planning to have children, knowing whether or not you carry a mutation in the SP7 gene can help you make informed decisions about family planning. Contact DNA Labs India today to learn more about our SP7 Gene Osteogenesis Imperfecta Type 12 NGS Genetic DNA Test.