Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL1A1 gene for Ehlers-Danlos syndrome type 7A

PreTest Information

Clinical History of Patient who is going for COL1A1 Gene Ehlers-Danlos syndrome type 7A NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL1A1 Gene Ehlers-Danlos syndrome type 7A NGS Genetic DNA Test gene COL1A1

Detail Description

DNA Labs India: Understanding the COL1A1 Gene and Ehlers-Danlos Syndrome Type 7A

Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects the connective tissues of the body. EDS is classified into thirteen subtypes, and one of them is Ehlers-Danlos syndrome type 7A (EDS7A). This subtype is caused by mutations in the COL1A1 gene.

The COL1A1 gene provides instructions for making a protein called collagen type I, which is a major component of connective tissues such as skin, bones, and tendons. Mutations in this gene can disrupt the production or structure of collagen type I, leading to the symptoms of EDS7A.

Symptoms of EDS7A

EDS7A is a rare subtype of EDS, and only a few cases have been reported in the medical literature. The symptoms of EDS7A can vary from person to person, but they generally include:

• Joint hypermobility
• Fragile skin that bruises easily
• Joint dislocations
• Weakness in the muscles and bones
• Short stature
• Blue sclera (the white part of the eye appears blue)
• Dental problems such as tooth decay and enamel defects

Some people with EDS7A may also experience hearing loss, eye problems, and other complications.

Diagnosis of EDS7A

Diagnosing EDS7A involves a combination of clinical evaluation, genetic testing, and imaging studies. The diagnosis is usually made by a team of healthcare professionals, including geneticists, rheumatologists, and dermatologists.

Genetic testing is the most reliable way to diagnose EDS7A. The recommended test is Next-Generation Sequencing (NGS) Genetic DNA test, which can identify mutations in the COL1A1 gene. The test is done using a blood sample, and the cost of the NGS Genetic DNA test is INR 20,000.

Treatment of EDS7A

Currently, there is no cure for EDS7A. Treatment focuses on managing the symptoms and preventing complications. Treatment options may include:

• Physical therapy to strengthen the muscles and improve mobility
• Pain medications to relieve joint pain
• Surgery to repair joint dislocations or other complications
• Dental treatments to prevent tooth decay and enamel defects
• Hearing aids or other assistive devices for hearing loss
• Regular check-ups with healthcare professionals to monitor for complications

Conclusion

Ehlers-Danlos syndrome type 7A is a rare genetic disorder caused by mutations in the COL1A1 gene. The symptoms of EDS7A can vary from person to person, but they generally include joint hypermobility, fragile skin, joint dislocations, weakness in the muscles and bones, short stature, blue sclera, and dental problems. The diagnosis of EDS7A involves genetic testing, and the recommended test is NGS Genetic DNA test, which costs INR 20,000. There is no cure for EDS7A, but treatment focuses on managing the symptoms and preventing complications.

If you suspect that you or a loved one may have EDS7A, it is important to consult with a healthcare professional who can provide a proper diagnosis and recommend appropriate treatment options.

For more information on genetic testing and diagnosis of rare genetic disorders, contact DNA Labs India today.