Nx Gen Sequencing Usher Syndrome Test
Comprehensive Genetic Testing for Hearing and Vision Disorders
The Nx Gen Sequencing Usher Syndrome Test represents a breakthrough in genetic diagnostics for individuals experiencing combined hearing and vision challenges. This advanced molecular analysis utilizes cutting-edge next-generation sequencing technology to provide definitive answers for patients and families affected by Usher syndrome, a complex genetic condition that impacts both auditory and visual functions.
What Does the Test Measure?
This comprehensive genetic panel specifically targets 11 critical genes associated with Usher syndrome:
- CDH23
- CIB2
- CLRN1
- DFNB31
- ADGRV1
- MYO7A
- PCDH15
- PDZD7
- USH1C
- USH1G
- USH2A
The test employs sophisticated NGS methodology combined with Sanger sequencing validation to ensure the highest accuracy in detecting pathogenic variants, including point mutations, insertions, deletions, and other genetic alterations that contribute to the development of Usher syndrome.
Who Should Consider This Test?
This specialized genetic testing is recommended for individuals presenting with:
- Progressive hearing loss beginning in childhood or early adulthood
- Night vision difficulties and peripheral vision loss
- Family history of combined hearing and vision impairment
- Diagnosis of retinitis pigmentosa with hearing concerns
- Unexplained balance and coordination issues
- Children with congenital hearing loss showing visual symptoms
Consultation with an ophthalmologist or ENT specialist is recommended before testing to ensure appropriate clinical evaluation.
Key Benefits of Genetic Testing
- Definitive Diagnosis: Provides conclusive genetic confirmation of Usher syndrome type and subtype
- Early Intervention: Enables proactive management strategies before significant vision loss occurs
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on specific genetic mutations
- Prognostic Insights: Helps predict disease progression and expected symptom timeline
- Research Contribution: Contributes to ongoing scientific understanding of genetic hearing and vision disorders
Understanding Your Test Results
Your genetic test report will provide detailed information about detected variants in the Usher syndrome-associated genes. Results typically fall into three categories:
- Positive Result: Identifies pathogenic mutations confirming Usher syndrome diagnosis
- Negative Result: No disease-causing variants detected in tested genes
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
All results are accompanied by comprehensive interpretation and recommendations for next steps. Genetic counseling is strongly recommended to fully understand your results and their implications for you and your family members.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Nx Gen Sequencing Usher Syndrome Test |
| Discount Price | $716 USD |
| Regular Price | $796 USD |
| Turnaround Time | Sample Daily by 9 am; Report 45 Working Days |
| Sample Type | 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Required Documentation | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Clarity
If you or a loved one are experiencing symptoms of combined hearing and vision loss, the Nx Gen Sequencing Usher Syndrome Test can provide the answers you need for informed healthcare decisions. Our team of genetic specialists and counselors are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or learn more about this comprehensive genetic analysis. Early diagnosis can make a significant difference in managing Usher syndrome and preserving quality of life.
