Connexin 26 Mutation Detection Test
Introduction to the Connexin 26 Mutation Detection Test
The Connexin 26 Mutation Detection Test is a molecular diagnostic tool that identifies mutations in the GJB2 gene, which encodes the Connexin 26 protein. This test is particularly important as mutations in this gene are one of the most common causes of hereditary hearing loss. Early detection of these mutations can significantly aid in the diagnosis and management of auditory disorders, allowing for timely interventions and support.
What the Test Measures
This test specifically measures the presence of genetic mutations in the Connexin 26 gene, which are associated with non-syndromic hearing loss. By analyzing a sample of whole blood, the test can determine if a patient carries these mutations, providing critical information for diagnosis.
Who Should Consider This Test
Individuals experiencing unexplained hearing loss, particularly those with a family history of hearing impairment, should consider the Connexin 26 Mutation Detection Test. Symptoms may include:
- Difficulty hearing in quiet or noisy environments
- Delayed speech development in children
- Family history of hearing loss
Additionally, patients referred by physicians, neurologists, or ENT specialists may benefit from this test.
Benefits of Taking the Test
- Early diagnosis of genetic hearing loss, allowing for proactive management.
- Informed family planning options for those with a genetic predisposition.
- Access to appropriate interventions and support services.
Understanding Your Results
Results from the Connexin 26 Mutation Detection Test will indicate whether or not mutations were detected. A positive result suggests a genetic cause for hearing loss, while a negative result may indicate other underlying issues. It is essential to discuss your results with your healthcare provider to understand their implications fully.
Test Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| Connexin 26 Mutation Detection Test | 21,000 | 36,000 |
Test Details
Sample Type: 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.
Turnaround Time: Sample submitted by 11 am; report available in 13 working days.
Book Your Test Today!
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, and we offer home sample collection services for your convenience. To book the Connexin 26 Mutation Detection Test, please call or WhatsApp us at +254711564616.
