GJB3 Gene Erythrokeratodermia variabilis et progressive Genetic Test
Welcome to DNA Labs UAE, a leading genetic lab offering the GJB3 Gene Erythrokeratodermia variabilis et progressive Genetic Test.
Test Details
The GJB3 gene is responsible for providing instructions for making a protein called connexin 31. Connexin 31 plays a crucial role in forming gap junctions, which are channels that allow for the transfer of small molecules and ions between cells. These gap junctions are particularly important in the skin, where they help maintain the normal functioning of the epidermis.
Erythrokeratodermia variabilis et progressive (EKVP) is a rare genetic skin disorder characterized by the presence of two distinct skin abnormalities: erythema (redness) and hyperkeratosis (thickening of the outer layer of the skin). These symptoms can vary in severity and may change over time, leading to the term “variabilis” in the condition’s name. The condition is progressive, meaning that it tends to worsen over time.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of EKVP, NGS genetic testing can be used to identify mutations or changes in the GJB3 gene that may be responsible for causing the condition. By identifying specific genetic mutations associated with EKVP, NGS genetic testing can provide a definitive diagnosis, help predict the course of the disease, and inform treatment decisions. It can also be useful for genetic counseling and family planning purposes.
Test Name
GJB3 Gene Erythrokeratodermia variabilis et progressive Genetic Test
Components
Price: 4400.0 AED
Sample Condition
Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery
3 to 4 Weeks
Method
NGS Technology
Test Type
Osteology Dermatology Immunology Disorders
Doctor
Dermatologist
Test Department
Genetics
Pre Test 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.
Thank you for choosing DNA Labs UAE for your genetic testing needs. For more information or to schedule an appointment, please contact us.
| Test Name | GJB3 Gene Erythrokeratodermia variabilis et progressive Genetic Test |
|---|---|
| Components | |
| Price | 4400.0 AED |
| Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
| Report Delivery | 3 to 4 Weeks |
| Method | NGS Technology |
| Test type | Osteology Dermatology Immunology Disorders |
| Doctor | Dermatologist |
| Test Department: | Genetics |
| Pre Test 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 |
| Test Details |
The GJB3 gene is responsible for providing instructions for making a protein called connexin 31. Connexin 31 plays a crucial role in forming gap junctions, which are channels that allow for the transfer of small molecules and ions between cells. These gap junctions are particularly important in the skin, where they help maintain the normal functioning of the epidermis. Erythrokeratodermia variabilis et progressive (EKVP) is a rare genetic skin disorder characterized by the presence of two distinct skin abnormalities: erythema (redness) and hyperkeratosis (thickening of the outer layer of the skin). These symptoms can vary in severity and may change over time, leading to the term “variabilis” in the condition’s name. The condition is progressive, meaning that it tends to worsen over time. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of EKVP, NGS genetic testing can be used to identify mutations or changes in the GJB3 gene that may be responsible for causing the condition. By identifying specific genetic mutations associated with EKVP, NGS genetic testing can provide a definitive diagnosis, help predict the course of the disease, and inform treatment decisions. It can also be useful for genetic counseling and family planning purposes. |
