Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL2A1 gene for Otospondylomegaepiphyseal dysplasia

PreTest Information

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

Detail Description

Understanding Otospondylomegaepiphyseal Dysplasia with COL2A1 Gene NGS Genetic DNA Test

Otospondylomegaepiphyseal dysplasia (OSMED) is a rare genetic disorder that affects the development of bones and cartilage. It is caused by mutations in the COL2A1 gene, which provides instructions for making type II collagen, a protein that is essential for the strength and flexibility of bones and cartilage.

Symptoms of OSMED

The symptoms of OSMED can vary greatly from person to person, but typically include:

• Short stature
• Abnormal curvature of the spine (scoliosis)
• Abnormal development of the bones of the ear (ossicles), which can lead to hearing loss
• Abnormal development of the joints, particularly the hips and knees
• Delayed development of motor skills

Diagnosis of OSMED

OSMED is typically diagnosed based on a combination of physical examination, medical history, and genetic testing. The COL2A1 gene NGS Genetic DNA Test is a powerful tool for diagnosing OSMED. This test analyzes the DNA sequence of the COL2A1 gene to identify mutations that may be causing the disorder.

COL2A1 Gene NGS Genetic DNA Test Cost

The cost of the COL2A1 gene NGS Genetic DNA Test in India is approximately INR 20,000. This cost may vary depending on the laboratory conducting the test and any additional services that may be required.

Why Choose DNA Labs India for the COL2A1 Gene NGS Genetic DNA Test?

DNA Labs India is a leading provider of genetic testing services in India. Our state-of-the-art laboratory is equipped with the latest technology and staffed by a team of highly trained and experienced professionals. We offer a wide range of genetic testing services, including the COL2A1 gene NGS Genetic DNA Test, and are committed to providing our clients with accurate, reliable, and timely results.

Conclusion

If you or someone you know is experiencing symptoms of OSMED, it is important to seek medical attention and consider genetic testing. The COL2A1 gene NGS Genetic DNA Test is a powerful tool for diagnosing OSMED and can help you better understand your condition and develop an effective treatment plan.

Contact DNA Labs India today to learn more about our genetic testing services and to schedule your COL2A1 gene NGS Genetic DNA Test.