Short Description

NGS genetic DNA test detecets for variant and mutation detection in ECM1 gene for Urbach-Wiethe disease

PreTest Information

Clinical History of Patient who is going for ECM1 Gene Urbach-Wiethe disease NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Urbach-Wiethe disease

Detail Description

ECM1 Gene Urbach-Wiethe disease NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Urbach-Wiethe disease is a rare genetic disorder that causes the hardening and thickening of the skin and mucous membranes. It is caused by a mutation in the ECM1 gene, which provides instructions for making a protein that is important for the structure and function of the extracellular matrix.

The symptoms of Urbach-Wiethe disease can vary greatly from person to person, but typically include:

• Thickened and hardened skin
• Small, white bumps on the skin
• Hoarse voice
• Difficulty swallowing
• Breathing problems
• Seizures

Diagnosis of Urbach-Wiethe disease typically involves a physical exam, a review of the patient's medical history, and a skin biopsy to confirm the presence of the disease. However, the most accurate way to diagnose Urbach-Wiethe disease is through genetic testing, specifically Next Generation Sequencing (NGS) genetic DNA testing.

DNA Labs India offers NGS genetic DNA testing for Urbach-Wiethe disease, which can detect mutations in the ECM1 gene with a high degree of accuracy. The cost of this test is INR 20,000.

If you or a loved one are experiencing symptoms of Urbach-Wiethe disease, it is important to seek medical attention and consider genetic testing for an accurate diagnosis. DNA Labs India offers a range of genetic testing services, including NGS genetic DNA testing for a variety of conditions and disorders.