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TNXB Gene Ehlers-Danlos syndrome type 3 NGS Genetic DNA Test Details
Understanding TNXB Gene Ehlers-Danlos Syndrome Type 3
Ehlers-Danlos Syndrome (EDS) is a group of inherited disorders that affect the connective tissues of the body. These tissues provide support and structure to various organs, including the skin, joints, and blood vessels. EDS is caused by mutations in different genes that are responsible for making the connective tissue proteins. One such gene is the TNXB gene, which is associated with Ehlers-Danlos Syndrome Type 3.
What is Ehlers-Danlos Syndrome Type 3?
Ehlers-Danlos Syndrome Type 3 (EDS Type 3) is also known as hypermobile EDS. It is the most common type of EDS and is characterized by hypermobility of joints, skin hyperextensibility, and tissue fragility. People with EDS Type 3 experience chronic pain, fatigue, and joint instability, which can severely impact their quality of life.
What is the TNXB Gene?
The TNXB gene provides instructions for making a protein called tenascin-X. This protein is found in the extracellular matrix, which is the network of proteins and other molecules that provide structure and support to cells. Tenascin-X plays an important role in the development and maintenance of connective tissues, including the skin, joints, and blood vessels.
How is TNXB Gene Mutations Related to EDS Type 3?
The TNXB gene mutations can cause a deficiency or abnormality in the tenascin-X protein, which can affect the structure and function of the connective tissues. This can lead to hypermobility of joints, skin hyperextensibility, and tissue fragility, which are the hallmark symptoms of EDS Type 3.
How is EDS Type 3 Diagnosed?
EDS Type 3 is diagnosed based on clinical features, family history, and genetic testing. The clinical features of EDS Type 3 include:
- Hypermobility of joints
- Skin hyperextensibility
- Tissue fragility
- Chronic pain and fatigue
The family history of EDS Type 3 can also provide clues to the diagnosis, as it is an inherited disorder. Finally, genetic testing can confirm the diagnosis by identifying mutations in the TNXB gene.
What is the Cost of TNXB Gene Ehlers-Danlos Syndrome Type 3 NGS Genetic DNA Test?
The cost of TNXB Gene Ehlers-Danlos Syndrome Type 3 NGS Genetic DNA Test in India is around INR 20,000. This test uses Next-Generation Sequencing (NGS) technology to analyze the TNXB gene and identify any mutations that may be associated with EDS Type 3.
Conclusion
EDS Type 3 is a genetic disorder that affects the connective tissues of the body. It is caused by mutations in the TNXB gene, which is responsible for making the tenascin-X protein. EDS Type 3 is diagnosed based on clinical features, family history, and genetic testing. The TNXB Gene Ehlers-Danlos Syndrome Type 3 NGS Genetic DNA Test can confirm the diagnosis and costs around INR 20,000 in India. Early diagnosis and management can help improve the quality of life of people with EDS Type 3.
If you suspect you or a loved one may have EDS Type 3, consult with a genetic counselor or healthcare provider for further evaluation and management.
