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Nx Gen Sequencing Usher Syndrome Test

Original price was: $796.Current price is: $716.

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The Nx Gen Sequencing Usher Syndrome Test is a comprehensive genetic analysis designed to detect mutations associated with Usher syndrome, a rare genetic disorder causing combined hearing and vision loss. This advanced diagnostic tool utilizes next-generation sequencing technology to examine 11 key genes including CDH23, CLRN1, MYO7A, and USH2A. The test provides crucial information for individuals experiencing progressive hearing impairment and retinitis pigmentosa symptoms. At $716 USD, this specialized testing offers definitive diagnosis, enables early intervention strategies, and helps guide personalized treatment approaches. Results are typically available within 45 working days, providing families with valuable insights for managing this complex condition.

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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.

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