Nx Gen Sequencing Usher Syndrome Test
Introduction
The Nx Gen Sequencing Usher Syndrome Test is a crucial diagnostic tool designed to identify genetic mutations associated with Usher Syndrome, a condition that leads to combined hearing loss and vision impairment. This test utilizes advanced Next Generation Sequencing (NGS) and Sanger sequencing methods to provide a comprehensive analysis of relevant genes, ensuring an accurate diagnosis for affected individuals.
What the Test Measures
This test detects mutations in various genes known to be associated with Usher Syndrome, including:
- CDH23
- CIB2
- CLRN1
- DFNB31
- ADGRV1
- MY-O7A
- PCDH15
- PDZD7
- USH1C
- USH1G
- USH2A
Who Should Consider This Test?
This test is recommended for individuals who exhibit:
- Symptoms of hearing loss or vision impairment
- Family history of Usher Syndrome or related conditions
- Consultation with an ophthalmologist or ENT specialist regarding genetic testing
Benefits of Taking the Test
- Early diagnosis and intervention can significantly improve quality of life.
- Understanding genetic predispositions to better manage health outcomes.
- Guidance for family planning and understanding hereditary patterns.
Understanding Your Results
Results from the Nx Gen Sequencing Usher Syndrome Test will typically be available within 45 working days. A healthcare provider will assist in interpreting the results, discussing their implications, and recommending any necessary follow-up actions.
Test Name and Price
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Nx Gen Sequencing Usher Syndrome Test | 573300 NGN | 637000 NGN |
How to Book the Test
To book the Nx Gen Sequencing Usher Syndrome Test, please contact us at +2348110567037. Our team is ready to assist you with the booking process and answer any questions you may have.
Pre-Test Instructions
It is essential to submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes, shipped refrigerated. Please ensure that a duly filled Whole Exome Sequencing Consent Form (Form 37) is included with your sample as it is mandatory for processing.
Turnaround Time
Samples should be submitted daily by 9 am, with results reported within 45 working days.
Specialty and Department
This test is conducted under the expertise of specialists in Molecular Diagnostics, including ophthalmologists and ENT specialists, ensuring a comprehensive approach to diagnosis and management.
