Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL1A2 gene for Ehlers-Danlos syndrome type 7B

PreTest Information

Clinical History of Patient who is going for COL1A2 Gene Ehlers-Danlos syndrome type 7B NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL1A2 Gene Ehlers-Danlos syndrome type 7B NGS Genetic DNA Test gene COL1A2

Detail Description

DNA Labs India: Understanding the COL1A2 Gene Ehlers-Danlos Syndrome Type 7B NGS Genetic DNA Test Cost INR:20000, Symptoms, and Diagnosis

Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders that affect the skin, joints, and blood vessels. EDS is caused by abnormalities in the genes that produce collagen, which is the main structural protein in the body. There are 13 types of EDS, each with their own set of symptoms and genetic causes.

COL1A2 Gene and EDS Type 7B

Ehlers-Danlos Syndrome Type 7B (EDS7B) is caused by mutations in the COL1A2 gene, which provides instructions for making the alpha-2 chain of type I collagen. This type of collagen is found in skin, bone, and other connective tissues. Mutations in the COL1A2 gene can lead to a decrease in the amount or quality of type I collagen, which can cause the signs and symptoms of EDS7B.

NGS Genetic DNA Test Cost INR:20000

DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test for EDS, including EDS7B. The cost of this test is INR 20,000. This test uses cutting-edge technology to analyze multiple genes at once, which can help to identify the genetic cause of EDS and guide treatment decisions.

Symptoms of EDS7B

The symptoms of EDS7B can vary widely from person to person, but may include:

• Hyperelastic skin
• Joints that are prone to dislocation and chronic pain
• Fragile blood vessels that can rupture easily
• Thin, easily bruised skin
• Delayed wound healing

Diagnosis of EDS7B

Diagnosis of EDS7B involves a combination of clinical evaluation, medical history, and genetic testing. A doctor may perform a physical examination to look for signs of EDS, such as hypermobility of the joints or stretchy skin. They may also take a family history to look for patterns of inheritance. Genetic testing, such as the NGS Genetic DNA Test offered by DNA Labs India, can help to confirm a diagnosis and identify the specific genetic mutation responsible for EDS.

Conclusion

Understanding the genetic causes of EDS, such as mutations in the COL1A2 gene in EDS7B, can help doctors to diagnose and treat this condition more effectively. DNA Labs India offers a state-of-the-art NGS Genetic DNA Test for EDS, including EDS7B, at a cost of INR 20,000. If you or a loved one is experiencing symptoms of EDS, speak to your doctor about genetic testing options.