Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL2A1 gene for Avascular necrosis of the femoral head, primary

PreTest Information

Clinical History of Patient who is going for COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic DNA Test gene COL2A1

Detail Description

COL2A1 Gene Avascular Necrosis of the Femoral Head: Symptoms, Diagnosis and DNA Testing

Avascular necrosis of the femoral head (AVN) is a condition that occurs when the blood supply to the femoral head is disrupted, leading to bone death and collapse. There are many causes of AVN, including trauma, alcoholism, steroid use, and systemic diseases such as sickle cell anemia. However, AVN can also be caused by genetic factors, such as mutations in the COL2A1 gene.

The COL2A1 Gene and AVN

The COL2A1 gene provides instructions for making type II collagen, which is a protein that forms the structural framework of many tissues, including cartilage and bone. Mutations in this gene can lead to a range of skeletal disorders, including AVN.

One particular mutation in the COL2A1 gene has been linked to AVN. This mutation changes a single nucleotide in the gene, leading to the substitution of one amino acid for another in the type II collagen protein. This alteration affects the structure and stability of the protein, leading to a higher risk of AVN.

Symptoms of AVN

The symptoms of AVN can vary depending on the severity of the condition. In the early stages, there may be no symptoms at all. However, as the disease progresses, the following symptoms may develop:

• Pain in the hip or groin area, which may be mild at first but can become severe over time
• Limping or difficulty walking
• Stiffness in the hip joint
• Decreased range of motion in the hip joint

Diagnosis of AVN

Diagnosis of AVN typically involves a combination of physical examination, imaging tests, and laboratory tests. Your doctor may perform a physical exam to assess your range of motion and look for signs of pain or tenderness in the hip area.

Imaging tests, such as X-rays, MRI, or CT scans, can provide detailed images of the hip joint and show any structural changes or bone damage. In some cases, a bone scan may also be performed to determine the extent of bone damage.

Laboratory tests, such as blood tests or genetic testing, may also be used to help diagnose AVN. Genetic testing can be particularly useful in cases where there is a family history of AVN or other skeletal disorders.

NGS Genetic DNA Test for COL2A1 Gene Mutation

If you have a family history of AVN or other skeletal disorders, you may want to consider genetic testing to determine if you carry the COL2A1 gene mutation. This can help you make informed decisions about your health and lifestyle, as well as provide valuable information for your family members.

NGS Genetic DNA testing is a non-invasive test that analyzes your DNA for specific mutations, including the COL2A1 gene mutation. The test is performed using a simple saliva or blood sample and provides accurate results within a few weeks.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA testing for COL2A1 gene mutation is approximately INR 20,000. However, the cost may vary depending on the testing facility and location.

Conclusion

If you are experiencing symptoms of AVN or have a family history of skeletal disorders, it may be worth considering genetic testing for the COL2A1 gene mutation. This can help you get an accurate diagnosis and make informed decisions about your health and lifestyle. Talk to your doctor or a genetic counselor to learn more about NGS Genetic DNA testing and how it can benefit you.