Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL5A2 gene for Ehlers-Danlos syndrome type 1/2

PreTest Information

Clinical History of Patient who is going for COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic DNA Test gene COL5A2

Detail Description

DNA Labs India: Understanding COL5A2 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic DNA Test

Have you ever heard of Ehlers-Danlos Syndrome (EDS)? It is a rare genetic disorder that affects the connective tissues of the body. There are different types of EDS, and one of them is known as COL5A2 gene Ehlers-Danlos Syndrome Type 1/2. This type of EDS is caused by mutations in the COL5A2 gene, which provides instructions for making a protein called type V collagen.

If you suspect that you or a loved one may have this condition, it is important to seek medical attention and get a proper diagnosis. One of the ways to do this is through a NGS Genetic DNA Test, which is offered by DNA Labs India.

Symptoms of COL5A2 Gene Ehlers-Danlos Syndrome Type 1/2

The symptoms of COL5A2 gene Ehlers-Danlos Syndrome Type 1/2 can vary from person to person. Some of the common signs and symptoms include:

• Joint hypermobility
• Fragile skin that bruises easily
• Stretchy skin
• Joint pain
• Unstable joints
• Flat feet
• Scoliosis
• Delayed wound healing

It is important to note that these symptoms can also be present in other types of EDS or other conditions, which is why a proper diagnosis is crucial.

Diagnosing COL5A2 Gene Ehlers-Danlos Syndrome Type 1/2

Diagnosing COL5A2 gene Ehlers-Danlos Syndrome Type 1/2 can be challenging, as it is a rare condition and the symptoms can be similar to other disorders. However, a NGS Genetic DNA Test can help confirm the diagnosis.

The test involves analyzing a sample of DNA to look for mutations in the COL5A2 gene. This can help identify whether a person has the condition or not. The test is safe and non-invasive, as it only requires a blood sample or a swab from the inside of the cheek.

Cost of NGS Genetic DNA Test for COL5A2 Gene Ehlers-Danlos Syndrome Type 1/2

The cost of the NGS Genetic DNA Test for COL5A2 gene Ehlers-Danlos Syndrome Type 1/2 at DNA Labs India is INR 20,000. This includes the cost of the test, as well as the analysis and interpretation of the results.

This may seem like a high cost, but it is important to remember that a proper diagnosis can help with early intervention and management of the condition. It can also help identify whether other family members may be at risk of inheriting the condition.

In Conclusion

If you suspect that you or a loved one may have COL5A2 gene Ehlers-Danlos Syndrome Type 1/2, it is important to seek medical attention and get a proper diagnosis. A NGS Genetic DNA Test can help confirm the diagnosis and provide important information for management and treatment of the condition. DNA Labs India offers this test at a cost of INR 20,000.

Remember, early intervention and management can make a big difference in the quality of life for those with COL5A2 gene Ehlers-Danlos Syndrome Type 1/2.