ESPN Gene Deafness Autosomal Recessive Type 36 NGS Genetic DNA Test
Comprehensive Genetic Screening for Hereditary Hearing Loss
The ESPN Gene Deafness Autosomal Recessive Type 36 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hereditary hearing disorders. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the ESPN (espin) gene, which plays a critical role in the structural integrity and function of hair cells within the inner ear. When mutations occur in this gene, they can lead to autosomal recessive type 36 deafness, a specific form of hereditary hearing impairment that affects individuals from birth or develops during early childhood.
What Does This Test Detect?
This comprehensive genetic analysis specifically targets:
- Pathogenic variants in the ESPN gene associated with autosomal recessive deafness type 36
- Point mutations, insertions, deletions, and other genetic alterations affecting ESPN function
- Hereditary patterns of hearing loss transmission within families
- Genetic markers for congenital or progressive sensorineural hearing loss
Who Should Consider This Test?
This genetic screening is particularly recommended for individuals experiencing:
- Congenital hearing loss or deafness present from birth
- Progressive hearing impairment developing during childhood
- Family history of hereditary hearing disorders
- Unexplained sensorineural hearing loss without clear environmental causes
- Consanguineous parentage or known family history of genetic disorders
- Planning for pregnancy with concerns about hereditary hearing conditions
Clinical Benefits of ESPN Gene Testing
Undergoing this genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms the genetic basis of hearing loss, eliminating diagnostic uncertainty
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Early Intervention: Enables timely implementation of hearing aids, cochlear implants, or communication strategies
- Personalized Management: Guides appropriate medical follow-up and monitoring protocols
- Genetic Counseling: Provides comprehensive risk assessment for family members
- Research Contribution: Advances understanding of hereditary hearing disorders
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies pathogenic mutations in the ESPN gene, confirming autosomal recessive type 36 deafness diagnosis
- Negative Result: No disease-causing mutations detected in the ESPN gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical implications requiring further evaluation
- Carrier Status: Identifies individuals carrying one copy of a mutated gene without exhibiting symptoms
All results are accompanied by comprehensive interpretation from our certified genetic counselors, who provide personalized guidance based on your specific genetic findings and family history.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ESPN Gene Deafness Autosomal Recessive Type 36 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Nationwide Accessibility
GGC DNA maintains comprehensive testing facilities 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 genetic counselors and ENT specialists ensures accessible, high-quality genetic testing services nationwide.
Take Control of Your Genetic Health
Understanding your genetic predisposition to hearing disorders empowers you to make informed healthcare decisions. The ESPN Gene Deafness Autosomal Recessive Type 36 NGS Genetic DNA Test provides critical information that can significantly impact your quality of life and that of your family members. Early genetic diagnosis enables proactive management strategies and appropriate interventions.
Ready to schedule your genetic screening? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Our specialists are available to discuss your testing options, answer questions about the process, and provide comprehensive pre-test genetic counseling to ensure you’re fully prepared for this important health assessment.
