CONNEXIN 30 MUTATION DETECTION Test
At DNA Labs UAE, we offer the CONNEXIN 30 MUTATION DETECTION test, which is a genetic test used to detect mutations in the GJB6 gene. This gene is responsible for encoding the connexin 30 protein, and mutations in this gene have been associated with various conditions, including hearing loss and skin disorders.
Test Cost: AED 1260.0
Symptoms and Diagnosis
If you are experiencing symptoms related to connexin 30-related disorders, such as hearing loss or skin disorders, it is important to get tested. The CONNEXIN 30 MUTATION DETECTION test can help diagnose the underlying cause of your symptoms and determine your risk of developing certain conditions.
Test Components
- Price: AED 1260.0
- Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Report Delivery
- Sample Sat by 11 am
- Report Working days
Method
The CONNEXIN 30 MUTATION DETECTION test is performed using PCR sequencing.
Test Type
The CONNEXIN 30 MUTATION DETECTION test is specifically designed to detect mutations related to neurologic disorders.
Doctor
This test can be ordered by a physician, neurologist, or ENT specialist.
Test Department
The CONNEXIN 30 MUTATION DETECTION test is conducted in our Molecular Diagnostics department.
Pre Test Information
A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for this test.
Test Details
The CONNEXIN 30 MUTATION DETECTION test involves analyzing a person’s DNA sample, typically obtained through a blood or saliva sample. The DNA is examined for specific mutations or changes in the GJB6 gene. If a mutation is detected, it can help diagnose the underlying cause of a person’s symptoms or determine their risk of developing certain conditions.
This test is typically ordered by a healthcare provider if there is a suspicion of a connexin 30-related disorder based on a person’s symptoms, family history, or other clinical findings. It can help guide treatment decisions and provide important information for genetic counseling.
It is important to note that this test specifically looks for mutations in the GJB6 gene and does not provide information about mutations in other genes that may also be involved in connexin-related disorders. Therefore, additional testing may be required if other genes are suspected to be involved.
Overall, the CONNEXIN 30 MUTATION DETECTION test plays a crucial role in diagnosing and managing connexin 30-related disorders, allowing for more personalized and targeted healthcare interventions.
Test Name | CONNEXIN 30 MUTATION DETECTION Test |
---|---|
Components | |
Price | 1260.0 AED |
Sample Condition | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Report Delivery | SampleSat by 11 am;Report Working days |
Method | PCR Sequencing |
Test type | Neurologic Disorder |
Doctor | Physician, Neurologist, ENT |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Test Details |
The CONNEXIN 30 MUTATION DETECTION test is a genetic test used to detect mutations in the GJB6 gene, which is responsible for encoding the connexin 30 protein. Mutations in this gene have been associated with various conditions, including hearing loss and skin disorders. The test involves analyzing a person’s DNA sample, typically obtained through a blood or saliva sample. The DNA is examined for specific mutations or changes in the GJB6 gene. If a mutation is detected, it can help diagnose the underlying cause of a person’s symptoms or determine their risk of developing certain conditions. The CONNEXIN 30 MUTATION DETECTION test is typically ordered by a healthcare provider if there is a suspicion of a connexin 30-related disorder based on a person’s symptoms, family history, or other clinical findings. It can help guide treatment decisions and provide important information for genetic counseling. It is important to note that this test specifically looks for mutations in the GJB6 gene and does not provide information about mutations in other genes that may also be involved in connexin-related disorders. Therefore, additional testing may be required if other genes are suspected to be involved. Overall, the CONNEXIN 30 MUTATION DETECTION test plays a crucial role in diagnosing and managing connexin 30-related disorders, allowing for more personalized and targeted healthcare interventions. |