Short Description

NGS genetic DNA test detecets for variant and mutation detection in COMP gene for Epiphyseal dysplasia, multiple, type 1

PreTest Information

Clinical History of Patient who is going for COMP Gene Epiphyseal dysplasia, multiple, type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COMP Gene Epiphyseal dysplasia, multiple, type 1 NGS Genetic DNA Test gene COMP

Detail Description

COMP Gene Epiphyseal Dysplasia, Multiple, Type 1 NGS Genetic DNA Test Cost INR 20000: Symptoms and Diagnosis

Epiphyseal dysplasia, multiple, type 1 is a rare genetic disorder that affects the growth and development of the bones in the body. It is caused by mutations in the COMP gene, which provides instructions for making a protein called cartilage oligomeric matrix protein. This protein is important for the development and maintenance of cartilage, which is the flexible tissue that cushions the joints and helps them move smoothly.

Symptoms

The symptoms of epiphyseal dysplasia, multiple, type 1 can vary from person to person, but they typically involve abnormal bone growth and joint pain. Some of the most common symptoms include:

• Short stature
• Abnormal curvature of the spine
• Joint pain and stiffness
• Difficulty moving joints
• Enlarged joints
• Flat feet
• Abnormal gait

These symptoms can be present at birth or they may develop later in life. In some cases, the symptoms may be mild and not significantly impact a person's daily life, while in other cases, they can be severe and disabling.

Diagnosis

Epiphyseal dysplasia, multiple, type 1 is typically diagnosed through a combination of physical examination, medical history, and genetic testing. During a physical examination, a doctor will look for signs of abnormal bone growth and joint deformities. They may also ask about a person's family history of bone disorders.

To confirm a diagnosis, a genetic test is often performed. The most common type of genetic test used to diagnose epiphyseal dysplasia, multiple, type 1 is called next-generation sequencing (NGS). This test analyzes a person's DNA to identify mutations in the COMP gene that are associated with the disorder.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for epiphyseal dysplasia, multiple, type 1 in India is typically around INR 20000. This cost may vary depending on the specific testing facility and any additional services that are included in the testing process.

Conclusion

Epiphyseal dysplasia, multiple, type 1 is a rare genetic disorder that can cause abnormal bone growth and joint pain. While the symptoms of this disorder can vary from person to person, they can significantly impact a person's daily life. If you or a loved one is experiencing symptoms of this disorder, it is important to speak with a doctor and consider undergoing genetic testing to confirm a diagnosis and explore treatment options.

At DNA Labs India, we offer high-quality genetic testing services for a range of genetic disorders, including epiphyseal dysplasia, multiple, type 1. Our team of experienced professionals uses state-of-the-art technology and techniques to provide accurate and reliable results. Contact us today to learn more about our services and how we can help you.