Short Description

NGS genetic DNA test detecets for variant and mutation detection in DST gene for Epidermolysis bullosa simplex, autosomal recessive type 2

PreTest Information

Clinical History of Patient who is going for DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DST Gene Epidermolysis bullosa simplex, autosomal recessive type 2 NGS Genetic DNA Test gene DST

Detail Description

DST Gene Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2 NGS Genetic DNA Test

Epidermolysis bullosa simplex (EBS) is a genetic skin disorder that causes blistering and skin erosions on the body. Autosomal recessive type 2 (EBS-AR2) is a subtype of EBS that is caused by mutations in the DST gene. The DST gene provides instructions for making a protein called dystonin, which helps to anchor the layers of the skin together.

NGS (Next-generation sequencing) is a high-throughput DNA sequencing technology that allows for the analysis of multiple genes at once. The DST Gene Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2 NGS Genetic DNA Test is a diagnostic test that can identify mutations in the DST gene that cause EBS-AR2.

Symptoms of EBS-AR2

The symptoms of EBS-AR2 typically begin at birth or in early infancy. They can include:

• Blisters on the skin, especially on the hands and feet
• Scarring
• Thickened skin
• Calluses on the palms and soles
• Nail dystrophy (abnormal nail growth)

Diagnosis of EBS-AR2

Diagnosis of EBS-AR2 is based on clinical evaluation and genetic testing. A dermatologist or genetic counselor may perform a skin biopsy to examine the skin under a microscope. Genetic testing can confirm the diagnosis by identifying mutations in the DST gene.

Cost of DST Gene Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2 NGS Genetic DNA Test

The cost of the DST Gene Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2 NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

The DST Gene Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2 NGS Genetic DNA Test is a valuable diagnostic tool for identifying mutations in the DST gene that cause EBS-AR2. Early diagnosis can lead to better management of the condition and improved quality of life for affected individuals. If you suspect that you or a loved one may have EBS-AR2, speak to a healthcare provider or genetic counselor about genetic testing.

At DNA Labs India, we offer a wide range of genetic tests, including the DST Gene Epidermolysis Bullosa Simplex, Autosomal Recessive Type 2 NGS Genetic DNA Test. Our laboratory is equipped with state-of-the-art technology and staffed by experienced professionals who are dedicated to providing accurate and reliable results. Contact us today to learn more about our services.