Connexin 30 Mutation Detection Test
Introduction to the Connexin 30 Mutation Detection Test
The Connexin 30 Mutation Detection Test is a crucial diagnostic tool designed to identify mutations in the GJB6 gene, which encodes the Connexin 30 protein. This test is particularly significant in the context of neurologic disorders, such as hereditary hearing loss and other related conditions. Understanding these genetic mutations can lead to early diagnosis and tailored treatment plans, improving patient outcomes and quality of life.
What the Test Measures
This test specifically detects mutations associated with the Connexin 30 protein, which plays a vital role in the functioning of gap junctions in the inner ear. By identifying these mutations, healthcare providers can better understand the underlying causes of neurologic disorders and hearing impairments.
Who Should Consider This Test?
Individuals who may benefit from the Connexin 30 Mutation Detection Test include:
- Patients with a family history of hearing loss or neurologic disorders.
- Individuals experiencing unexplained hearing impairment.
- Patients with symptoms of neurologic disorders, such as balance issues or cognitive decline.
Benefits of Taking the Test
The Connexin 30 Mutation Detection Test offers several benefits:
- Early identification of genetic mutations linked to neurologic disorders.
- Informed decision-making regarding treatment options.
- Enhanced understanding of the hereditary nature of certain conditions.
- Improved management strategies for affected individuals and their families.
Understanding Your Results
Upon receiving your results, it is essential to consult with your healthcare provider to interpret the findings accurately. They will guide you through the implications of your results, discuss potential treatment options, and address any concerns you may have. This collaborative approach ensures that you receive the best possible care tailored to your unique genetic profile.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Connexin 30 Mutation Detection Test | 160000 NGN | 210000 NGN |
Book the Connexin 30 Mutation Detection Test
To book the Connexin 30 Mutation Detection Test or for more information, please contact us at +2348077798758. Our dedicated team is ready to assist you with your diagnostic needs. Ensure your health and well-being by taking this essential step towards understanding your genetic profile.
Test Details
- Turnaround Time: Sample submitted by 11 am; Report ready in working days.
- Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
- Pre-test Instructions: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
- Specialty: Physician, Neurologist, ENT
- Department: Molecular Diagnostics
- Method: PCR Sequencing
- Disease Type: Neurologic Disorder
