Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL1A2 gene for Osteogenesis imperfecta

PreTest Information

Clinical History of Patient who is going for COL1A2 Gene Osteogenesis imperfecta NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL1A2 Gene Osteogenesis imperfecta NGS Genetic DNA Test gene COL1A2

Detail Description

COL1A2 Gene, Osteogenesis imperfecta, and NGS Genetic DNA Test

Osteogenesis imperfecta (OI) is a rare genetic disorder that affects bone strength and causes fractures. It is caused by mutations in the COL1A1 or COL1A2 genes, which provide instructions for making type 1 collagen. Collagen is the main protein in bones, and mutations in these genes can lead to weak bones.

The COL1A2 gene is located on chromosome 7 and provides instructions for making the alpha-2 chain of type 1 collagen. Mutations in this gene can cause OI type 2, which is the most severe form of the disorder. OI type 2 is usually fatal in the perinatal period or shortly after birth.

If you suspect that you or your child may have OI, it is important to get a diagnosis as soon as possible. The symptoms of OI can vary widely and may include:

• Fractures that occur easily or without a clear cause
• Short stature
• Deformities of the bones
• Loose joints and muscle weakness

Diagnosis of OI usually involves a physical exam, medical history, and imaging tests such as X-rays or bone density scans. Genetic testing can also be used to confirm a diagnosis and identify the specific mutation that is causing the disorder.

At DNA Labs India, we offer NGS Genetic DNA testing for OI. This test uses next-generation sequencing technology to analyze the entire COL1A2 gene, identifying any mutations that may be present. This test is highly accurate and can provide a diagnosis in as little as two weeks.

The cost of our NGS Genetic DNA test for OI is INR 20,000. We also offer genetic counseling services to help you understand your test results and make informed decisions about your health.

If you suspect that you or a loved one may have OI, don't wait to get a diagnosis. Contact DNA Labs India today to learn more about our NGS Genetic DNA testing services and how we can help.