Short Description

NGS genetic DNA test detecets for variant and mutation detection in TGFB1 gene for Camurati-Engelmann disease

PreTest Information

Clinical History of Patient who is going for TGFB1 Gene Camurati-Engelmann disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TGFB1 Gene Camurati-Engelmann disease NGS Genetic DNA Test gene TGFB1

Detail Description

TGFB1 Gene Camurati-Engelmann disease NGS Genetic DNA Test

What is Camurati-Engelmann disease?

Camurati-Engelmann disease (CED) is a rare genetic disorder that affects the bones. It is caused by mutations in the TGFB1 gene, which encodes the transforming growth factor beta-1 (TGF-β1) protein. The protein plays a crucial role in bone growth and development, and mutations in the gene can lead to abnormal bone formation and remodeling.

What are the symptoms of Camurati-Engelmann disease?

The symptoms of Camurati-Engelmann disease can vary greatly from person to person, but they typically involve bone pain and weakness. Some of the common symptoms include:

• Chronic muscle pain and weakness
• Fatigue
• Difficulty walking
• Bone fractures
• Delayed puberty
• Vision and hearing problems

How is Camurati-Engelmann disease diagnosed?

Camurati-Engelmann disease is typically diagnosed through a combination of medical history, physical examination, and diagnostic tests. Some of the common diagnostic tests include:

• X-rays of the affected bones
• Bone density tests
• MRI scans
• Genetic testing to identify mutations in the TGFB1 gene

TGFB1 Gene Camurati-Engelmann disease NGS Genetic DNA Test

At DNA Labs India, we offer the TGFB1 Gene Camurati-Engelmann disease NGS Genetic DNA Test. This test is a non-invasive way to identify mutations in the TGFB1 gene and diagnose Camurati-Engelmann disease. The test uses next-generation sequencing (NGS) technology to analyze the patient's DNA and identify any mutations in the gene.

What is the cost of the TGFB1 Gene Camurati-Engelmann disease NGS Genetic DNA Test?

The cost of the TGFB1 Gene Camurati-Engelmann disease NGS Genetic DNA Test at DNA Labs India is INR 20,000.

Conclusion

Camurati-Engelmann disease is a rare genetic disorder that can cause significant pain and disability. Early diagnosis and treatment can help manage the symptoms and improve the patient's quality of life. The TGFB1 Gene Camurati-Engelmann disease NGS Genetic DNA Test offered by DNA Labs India is a non-invasive and reliable way to diagnose this condition. If you or someone you know is experiencing symptoms of Camurati-Engelmann disease, contact DNA Labs India to learn more about this test and how it can help.