Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL2A1 gene for Legg-Calve-Perthes disease

PreTest Information

Clinical History of Patient who is going for COL2A1 Gene Legg-Calve-Perthes disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL2A1 Gene Legg-Calve-Perthes disease NGS Genetic DNA Test gene COL2A1

Detail Description

DNA Labs India: Understanding Legg-Calve-Perthes Disease and the COL2A1 Gene

Legg-Calve-Perthes disease is a rare childhood condition that affects the hip joint. It occurs when blood supply to the femoral head (top of the thigh bone) is disrupted, leading to bone death and deformity. While the exact cause of this condition is still unknown, recent research suggests that mutations in the COL2A1 gene may play a role in its development.

The Role of the COL2A1 Gene in Legg-Calve-Perthes Disease

The COL2A1 gene is responsible for producing type II collagen, which is a major component of cartilage and bone tissue. Mutations in this gene can lead to abnormal collagen production and structure, which can affect the strength and integrity of bones and joints.

Recent studies have found that certain mutations in the COL2A1 gene may be associated with an increased risk of developing Legg-Calve-Perthes disease. Specifically, mutations that affect the structure and stability of the collagen molecule may impair the blood supply to the hip joint, leading to bone death and deformity.

Diagnosing Legg-Calve-Perthes Disease

Diagnosing Legg-Calve-Perthes disease typically involves a combination of physical examination, medical history review, and imaging tests. Common symptoms of this condition include:

• Limping or favoring one leg
• Pain or stiffness in the hip or thigh
• Reduced range of motion in the hip joint
• Weakness or atrophy in the leg muscles

Imaging tests such as X-rays, MRI, or CT scans can help confirm the diagnosis and assess the extent of bone damage and deformity.

The Benefits of NGS Genetic DNA Testing

NGS (next-generation sequencing) genetic DNA testing is a powerful tool for identifying mutations in the COL2A1 gene and other genes associated with Legg-Calve-Perthes disease. This type of testing can provide a more comprehensive and accurate diagnosis, which can help guide treatment decisions and improve outcomes.

NGS testing can also help identify genetic mutations in family members who may be at risk for developing the condition, allowing for earlier intervention and prevention.

The Cost of NGS Genetic DNA Testing for Legg-Calve-Perthes Disease

The cost of NGS genetic DNA testing for Legg-Calve-Perthes disease varies depending on the specific test and the laboratory performing the analysis. At DNA Labs India, we offer comprehensive NGS testing for Legg-Calve-Perthes disease and other genetic conditions at an affordable cost of INR 20,000.

Our testing process is quick, easy, and non-invasive, requiring only a small sample of blood or saliva. Results are typically available within 2-3 weeks, allowing for prompt diagnosis and treatment.

Conclusion

Legg-Calve-Perthes disease is a rare but serious condition that can cause significant pain, disability, and deformity. Understanding the role of the COL2A1 gene in its development can help guide diagnosis and treatment decisions, while NGS genetic DNA testing can provide a more comprehensive and accurate diagnosis. At DNA Labs India, we are committed to providing affordable, reliable, and accessible genetic testing services to help improve the health and wellbeing of our patients.

If you have any questions about Legg-Calve-Perthes disease or NGS genetic DNA testing, please contact us today. We are here to help.