Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL3A1 gene for Ehlers-Danlos syndrome type 3

PreTest Information

Clinical History of Patient who is going for COL3A1 Gene Ehlers-Danlos syndrome type 3 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL3A1 Gene Ehlers-Danlos syndrome type 3 NGS Genetic DNA Test gene COL3A1

Detail Description

DNA Labs India: NGS Genetic DNA Test for COL3A1 Gene Ehlers-Danlos syndrome type 3

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders that affect the skin, joints, and blood vessels. There are 13 subtypes of EDS, each caused by a different genetic mutation. One of the subtypes is Ehlers-Danlos syndrome type 3, which is caused by mutations in the COL3A1 gene.

What is the COL3A1 gene?

The COL3A1 gene provides instructions for making a protein called type III collagen. This protein is found in many tissues throughout the body, including the skin, blood vessels, and internal organs. Type III collagen helps provide strength and elasticity to these tissues, which allows them to stretch and recoil without tearing.

What is Ehlers-Danlos syndrome type 3?

Ehlers-Danlos syndrome type 3, also known as hypermobility type EDS, is characterized by joint hypermobility, skin hyperextensibility, and easy bruising. People with this subtype of EDS may also experience chronic pain, fatigue, and gastrointestinal issues.

What is an NGS Genetic DNA Test?

A Next-Generation Sequencing (NGS) Genetic DNA Test is a type of genetic test that can analyze multiple genes at once. This test can detect mutations in the COL3A1 gene, as well as other genes that may be associated with EDS or related conditions.

What is the cost of the NGS Genetic DNA Test for COL3A1 Gene Ehlers-Danlos syndrome type 3?

The cost of the NGS Genetic DNA Test for COL3A1 Gene Ehlers-Danlos syndrome type 3 at DNA Labs India is INR 20,000.

What are the symptoms of Ehlers-Danlos syndrome type 3?

The symptoms of Ehlers-Danlos syndrome type 3 can vary widely between individuals, but may include:

• Joint hypermobility
• Skin hyperextensibility
• Easy bruising
• Chronic pain
• Fatigue
• Gastrointestinal issues

How is Ehlers-Danlos syndrome type 3 diagnosed?

Ehlers-Danlos syndrome type 3 is typically diagnosed based on clinical evaluation, family history, and genetic testing. The NGS Genetic DNA Test for COL3A1 Gene Ehlers-Danlos syndrome type 3 can help confirm a diagnosis and identify any other genetic mutations that may be contributing to the individual's symptoms.

Conclusion

If you or a loved one is experiencing symptoms of Ehlers-Danlos syndrome type 3, it is important to seek medical evaluation and genetic testing. The NGS Genetic DNA Test for COL3A1 Gene Ehlers-Danlos syndrome type 3 offered by DNA Labs India can provide valuable information for diagnosis and treatment. Contact us today to learn more about this test and our other genetic testing services.