Connexin 26 Mutation Detection Test
Introduction
The Connexin 26 Mutation Detection Test is a pivotal diagnostic tool designed to identify mutations in the GJB2 gene, which encodes the Connexin 26 protein. This protein is essential for normal hearing, and mutations can lead to hereditary hearing loss, affecting individuals from birth or developing later in life. Understanding one’s genetic predisposition to hearing loss is vital for early intervention and management, making this test an invaluable resource for patients and healthcare providers alike.
What the Test Measures
This test specifically detects mutations in the GJB2 gene. By analyzing a blood sample, it identifies any genetic alterations that may indicate a risk for hearing loss. This information is crucial for determining appropriate treatment options and for family planning decisions.
Who Should Consider This Test
Individuals who should consider the Connexin 26 Mutation Detection Test include:
- Those with a family history of hearing loss.
- Individuals experiencing unexplained hearing impairment.
- Newborns failing hearing screening tests.
- Patients with neurological symptoms or disorders related to hearing.
Benefits of Taking the Test
The benefits of undergoing the Connexin 26 Mutation Detection Test include:
- Early diagnosis of genetic hearing loss.
- Informed decision-making regarding treatment options.
- Guidance for family planning and genetic counseling.
- Access to tailored interventions that may improve hearing outcomes.
Understanding Your Results
Results from the Connexin 26 Mutation Detection Test will indicate whether any mutations were found in the GJB2 gene. A positive result suggests a genetic predisposition to hearing loss, while a negative result indicates no detected mutations. It is essential to discuss results with a healthcare provider to understand their implications fully.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Connexin 26 Mutation Detection Test | 210000 NGN | 360000 NGN |
Booking the Test
To book the Connexin 26 Mutation Detection Test, please contact us at +2348077798758 via call or WhatsApp. Ensure you have completed the Genomics Clinical Information Requisition Form (Form 20) before your appointment. Remember, samples should be collected in a 1 Lavender top (EDTA) tube and shipped refrigerated. Do not freeze the sample.
Test Details
Turnaround Time: Sample submitted by 11 am; report available in 13 working days.
Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube.
Pre-Test Instructions: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Specialty: Physician, Neurologist, ENT
Department: Molecular Diagnostics
Method: PCR
Disease Type: Neurologic Disorder
