Short Description

NGS genetic DNA test detecets for variant and mutation detection in DSE gene for Ehlers-Danlos syndrome, musculocontractural type 2

PreTest Information

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

Detail Description

DSE Gene Ehlers-Danlos Syndrome, Musculocontractural Type 2 NGS Genetic DNA Test

Ehlers-Danlos Syndrome (EDS) is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in various genes that are responsible for the production of collagen, a protein that provides strength and elasticity to the skin, joints, and other organs.

One of the genes associated with EDS is the DSE gene, which provides instructions for making an enzyme called dermatan sulfate epimerase. Mutations in this gene can lead to a rare subtype of EDS known as Musculocontractural Type 2 (MC2).

Symptoms of MC2

MC2 is characterized by a range of symptoms that can vary in severity from person to person. Some common symptoms of MC2 include:

• Joint hypermobility
• Contractures of the fingers, elbows, and knees
• Abnormal scarring
• Thin and fragile skin
• Short stature
• Developmental delays
• Eye problems

MC2 is a progressive condition, which means that symptoms may worsen over time.

Diagnosis of MC2

Diagnosing MC2 can be challenging, as the symptoms can be similar to those of other connective tissue disorders. A diagnosis is typically made based on a combination of clinical evaluation, genetic testing, and imaging studies.

Genetic testing is a key component of the diagnostic process for MC2. Specifically, Next-Generation Sequencing (NGS) technology can be used to analyze the DSE gene and detect any mutations that may be present.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for MC2 varies depending on the laboratory and location. At DNA Labs India, the cost of an NGS genetic DNA test for MC2 is INR 20,000.

Conclusion

MC2 is a rare subtype of EDS that is caused by mutations in the DSE gene. Symptoms of MC2 can vary in severity and can be challenging to diagnose. Genetic testing, specifically NGS technology, can help identify any mutations in the DSE gene and aid in the diagnosis of MC2. DNA Labs India offers NGS genetic DNA testing for MC2 at an affordable cost of INR 20,000.

If you suspect that you or a loved one may have MC2 or another connective tissue disorder, it is important to speak with a healthcare professional who can provide a proper diagnosis and treatment plan.

For more information on genetic testing and diagnostic services for connective tissue disorders, contact DNA Labs India today.