Short Description

NGS genetic DNA test detecets for variant and mutation detection in GJB4 gene for Erythrokeratodermia variabilis et progressive

PreTest Information

Clinical History of Patient who is going for GJB4 Gene Erythrokeratodermia variabilis et progressive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB4 Gene Erythrokeratodermia variabilis et progressive NGS Genetic DNA Test gene GJB4

Detail Description

GJB4 Gene Erythrokeratodermia variabilis et progressive NGS Genetic DNA Test

Erythrokeratodermia variabilis et progressive (EKVP) is a rare genetic skin disorder characterized by erythematous and hyperkeratotic lesions that vary in size, shape, and distribution on the skin. The disorder is caused by mutations in the GJB4 gene, which encodes for the gap junction protein connexin 30.3.

The connexin 30.3 protein forms gap junction channels that allow for communication between adjacent cells in the epidermis. Mutations in the GJB4 gene disrupt the function of connexin 30.3, leading to the development of EKVP.

Symptoms

The symptoms of EKVP can vary greatly between individuals and even within the same individual at different times. The most common symptoms include:

• Erythematous and hyperkeratotic lesions on the skin
• Lesions that vary in size, shape, and distribution
• Lesions that come and go or change in appearance over time
• Lesions that may be itchy or painful

Diagnosis

Diagnosis of EKVP is based on clinical presentation and genetic testing. A dermatologist can often diagnose EKVP based on the appearance of the skin lesions. However, genetic testing is necessary to confirm the diagnosis and identify the specific mutation in the GJB4 gene.

NGS Genetic DNA testing is a highly accurate and reliable method for identifying mutations in the GJB4 gene. This test involves sequencing the entire coding region of the GJB4 gene to identify any mutations or variations that may be present. The test can be performed using a blood sample or a swab of the inside of the cheek.

Cost

The cost of NGS Genetic DNA testing for the GJB4 gene varies depending on the laboratory and location. In India, the cost of the test is typically around INR 20,000.

Conclusion

Erythrokeratodermia variabilis et progressive is a rare genetic skin disorder caused by mutations in the GJB4 gene. The disorder can cause a range of symptoms, including erythematous and hyperkeratotic lesions on the skin. Diagnosis of EKVP is based on clinical presentation and genetic testing, with NGS Genetic DNA testing being the most reliable method for identifying mutations in the GJB4 gene. The cost of NGS Genetic DNA testing for the GJB4 gene in India is typically around INR 20,000.

If you suspect that you or a loved one may have EKVP, it is important to consult with a dermatologist and genetic counselor to discuss testing options and treatment options.