Short Description

NGS genetic DNA test detecets for variant and mutation detection in GJB3 gene for Erythrokeratodermia variabilis et progressive

PreTest Information

Clinical History of Patient who is going for GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic DNA Test gene GJB3

Detail Description

GJB3 Gene Erythrokeratodermia Variabilis et Progressive NGS Genetic DNA Test Cost INR: 20,000 Symptoms Diagnosis

Erythrokeratodermia variabilis et progressive (EKVP) is a rare genetic skin disorder that affects the skin's ability to regenerate. The condition is caused by mutations in the GJB3 gene, which encodes for the protein connexin 31. Connexin 31 is found in the skin's epidermis and is responsible for the formation of gap junctions between cells. These gap junctions allow for communication between cells and play a crucial role in maintaining the skin's barrier function.

Symptoms of Erythrokeratodermia Variabilis et Progressive

The symptoms of EKVP can vary greatly between individuals, even within the same family. The condition typically presents with red, scaly patches on the skin that can be itchy and painful. These patches may appear on any part of the body, but are most commonly found on the face, scalp, and trunk. The patches may come and go, and can change in size and shape over time. In some cases, the patches may be accompanied by thickening of the skin (hyperkeratosis) and blistering.

Diagnosis of Erythrokeratodermia Variabilis et Progressive

Diagnosis of EKVP can be challenging, as the symptoms can be similar to other skin conditions. A skin biopsy may be performed to confirm the diagnosis, which will show hyperkeratosis and a thickening of the skin's stratum corneum. Genetic testing can also be used to confirm a diagnosis of EKVP by identifying mutations in the GJB3 gene.

NGS Genetic DNA Test for GJB3 Gene

Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations in the GJB3 gene. This test can detect both known and novel mutations, making it a valuable tool for diagnosing EKVP. The test is non-invasive and involves taking a small sample of blood or saliva. The cost of the NGS genetic DNA test for the GJB3 gene is INR 20,000.

Conclusion

Erythrokeratodermia variabilis et progressive is a rare genetic skin disorder that can be challenging to diagnose. Genetic testing can help confirm a diagnosis of EKVP by identifying mutations in the GJB3 gene. The NGS genetic DNA test for the GJB3 gene is a non-invasive and effective tool for diagnosing EKVP, and has a cost of INR 20,000.

If you suspect that you or a loved one may have EKVP, it is important to seek medical advice from a dermatologist or genetic counselor. Early diagnosis and management can help prevent complications and improve outcomes for individuals with this condition.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for GJB3 Gene Erythrokeratodermia variabilis et progressive NGS Genetic DNA Test