Short Description

NGS genetic DNA test detecets for variant and mutation detection in MMP14 gene for Winchester Syndrome

PreTest Information

Clinical History of Patient who is going for MMP14 Gene Winchester Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with MMP14 Gene Winchester Syndrome NGS Genetic DNA Test gene MMP14

Detail Description

DNA Labs India: MMP14 Gene Winchester Syndrome NGS Genetic DNA Test

Winchester syndrome is a rare genetic disorder that affects the bones and joints. It is caused by a mutation in the MMP14 gene, which is responsible for producing an enzyme called matrix metalloproteinase-14. This enzyme plays a crucial role in the breakdown and remodeling of the extracellular matrix, which is the material that surrounds cells in the body.

Individuals with Winchester syndrome have a deficiency in matrix metalloproteinase-14, which leads to the accumulation of extracellular matrix in the bones and joints. This accumulation causes abnormal bone growth, joint stiffness, and other skeletal abnormalities.

Symptoms of Winchester Syndrome

The symptoms of Winchester syndrome can vary depending on the severity of the condition. Some of the most common symptoms include:

• Abnormal bone growth
• Joint stiffness
• Skeletal abnormalities
• Short stature
• Swollen joints
• Pain and inflammation
• Developmental delays

Diagnosis of Winchester Syndrome

Winchester syndrome can be diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies. A physical exam may reveal skeletal abnormalities and joint stiffness, while imaging studies such as X-rays and CT scans can help to visualize the bone and joint abnormalities.

Genetic testing is also an important tool for diagnosing Winchester syndrome. A NGS genetic DNA test can identify mutations in the MMP14 gene that are responsible for the condition.

MMP14 Gene Winchester Syndrome NGS Genetic DNA Test Cost

The cost of a NGS genetic DNA test for Winchester syndrome at DNA Labs India is INR 20,000. This test uses Next Generation Sequencing (NGS) technology to analyze the DNA sequence of the MMP14 gene and identify any mutations that may be present.

Conclusion

Winchester syndrome is a rare genetic disorder that affects the bones and joints. It is caused by a mutation in the MMP14 gene, which can be identified through a NGS genetic DNA test. If you or a loved one is experiencing symptoms of Winchester syndrome, it is important to seek medical attention and consider genetic testing to obtain an accurate diagnosis and appropriate treatment.

At DNA Labs India, we offer a range of genetic testing services to help individuals and families better understand their health and genetic risks. Contact us today to learn more about our testing options and how we can help.