GJB2 Gene Keratoderma Palmoplantar with Deafness Genetic Test
Are you experiencing thickening of the skin on your palms and soles along with hearing loss? You may be suffering from GJB2 gene keratoderma palmoplantar with deafness, a genetic condition caused by mutations in the GJB2 gene. To diagnose this condition, DNA Labs UAE offers a comprehensive genetic test.
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: Ear Nose Throat Disorders
- Doctor: ENT Doctor
- Test Department: Genetics
Pre Test Information
If you are planning to undergo the SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test, it is essential to provide a clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test gene SLC52A15.
Test Details
GJB2 gene keratoderma, palmoplantar, with deafness is characterized by thickening of the skin on the palms and soles (keratoderma) and hearing loss. This genetic condition is caused by mutations in the GJB2 gene. To diagnose this condition, a Next-Generation Sequencing (NGS) genetic test is performed.
NGS is a high-throughput method that allows for the simultaneous analysis of multiple genes, including the GJB2 gene. This technology identifies any mutations or variants that may be present. The test involves obtaining a DNA sample, typically through a blood sample or saliva swab. The DNA is then sequenced using NGS technology to identify any variations or mutations in the GJB2 gene.
If a mutation associated with keratoderma and deafness is identified in the GJB2 gene, a diagnosis can be made. This information is crucial in guiding treatment and management options for individuals with this condition.
Before undergoing any genetic testing, it is important to consult with a healthcare professional or genetic counselor. They can provide you with the necessary information regarding the benefits, limitations, and potential implications of the test results.
Test Name | GJB2 Gene Keratoderma palmoplantar with deafness 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 | Ear Nose Throat Disorders |
Doctor | ENT Doctor |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic DNA Test gene SLC52A15 |
Test Details |
GJB2 gene keratoderma, palmoplantar, with deafness is a genetic condition characterized by thickening of the skin on the palms and soles (keratoderma) and hearing loss. It is caused by mutations in the GJB2 gene. To diagnose this condition, a Next-Generation Sequencing (NGS) genetic test can be performed. NGS is a high-throughput method that allows for the simultaneous analysis of multiple genes, including the GJB2 gene, to identify any mutations or variants that may be present. The NGS test involves obtaining a DNA sample, typically through a blood sample or saliva swab, from the individual suspected to have the condition. The DNA is then sequenced using NGS technology, which reads the genetic code and identifies any variations or mutations in the GJB2 gene. If a mutation is identified in the GJB2 gene that is known to be associated with keratoderma and deafness, a diagnosis can be made. This information can help guide treatment and management options for individuals with this condition. It is important to consult with a healthcare professional or genetic counselor before undergoing any genetic testing to understand the benefits, limitations, and potential implications of the test results. |