Short Description

NGS genetic DNA test detecets for variant and mutation detection in ENPP1 gene for Cole disease

PreTest Information

Clinical History of Patient who is going for ENPP1 Gene Cole disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ENPP1 Gene Cole disease NGS Genetic DNA Test gene ENPP1

Detail Description

ENPP1 Gene Cole Disease NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DNA Labs India is a leading provider of genetic testing services in India. We offer a range of genetic tests, including the ENPP1 Gene Cole Disease NGS Genetic DNA Test. This test is designed to help diagnose Cole disease, a rare genetic disorder caused by mutations in the ENPP1 gene. The test is available at a cost of INR 20,000.

What is Cole Disease?

Cole disease is a rare genetic disorder that affects the bones and skin. It is caused by mutations in the ENPP1 gene, which is responsible for producing a protein that helps regulate bone growth and mineralization. People with Cole disease may have abnormal bone growth, thickening of the skin, and other symptoms.

What are the Symptoms of Cole Disease?

The symptoms of Cole disease can vary from person to person, but may include:

• Abnormal bone growth
• Thickening of the skin
• Joint pain and stiffness
• Delayed growth and development
• Short stature
• Frequent fractures

How is Cole Disease Diagnosed?

Cole disease is diagnosed through a combination of physical examination, medical history, and genetic testing. The ENPP1 Gene Cole Disease NGS Genetic DNA Test is a highly accurate way to diagnose Cole disease. This test looks for mutations in the ENPP1 gene, which can confirm a diagnosis of Cole disease.

What is the ENPP1 Gene Cole Disease NGS Genetic DNA Test?

The ENPP1 Gene Cole Disease NGS Genetic DNA Test is a next-generation sequencing (NGS) test that analyzes the ENPP1 gene for mutations. This test is highly accurate and can detect even small mutations in the gene. The test is performed using a small sample of blood or saliva, which is collected at one of our testing centers.

How Much Does the ENPP1 Gene Cole Disease NGS Genetic DNA Test Cost?

The cost of the ENPP1 Gene Cole Disease NGS Genetic DNA Test is INR 20,000. This includes the cost of the test, as well as genetic counseling and support from our team of genetic experts.

Why Choose DNA Labs India for Genetic Testing?

At DNA Labs India, we are committed to providing the highest quality genetic testing services to our patients. We use the latest technology and techniques to ensure accurate and reliable results. Our team of genetic experts is available to provide support and guidance throughout the testing process. We also offer competitive pricing and fast turnaround times.

Conclusion

If you or a loved one is experiencing symptoms of Cole disease, the ENPP1 Gene Cole Disease NGS Genetic DNA Test may be able to provide a diagnosis. This test is highly accurate and can detect even small mutations in the ENPP1 gene. Contact DNA Labs India today to learn more about this test and our other genetic testing services.

Cole Disease, also known as Cole-Carpenter syndrome, is a rare genetic disorder that affects bone development and can be associated with other features such as craniosynostosis (premature fusion of the skull bones) and ocular abnormalities. Mutations in the ENPP1 gene have been associated with Cole Disease.