SYNE4 Gene Deafness Autosomal Recessive Type 76 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Hearing Loss
The SYNE4 Gene Deafness Autosomal Recessive Type 76 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hereditary hearing disorders. This advanced testing methodology utilizes Next-Generation Sequencing (NGS) technology to precisely identify mutations in the SYNE4 gene, which plays a critical role in auditory function and inner ear development. Understanding your genetic predisposition to hearing loss can significantly impact treatment decisions, family planning, and preventive healthcare strategies.
What Does This Test Measure and Detect?
This specialized genetic test specifically targets the SYNE4 gene, analyzing its complete coding regions and adjacent intronic sequences to identify pathogenic variants associated with autosomal recessive deafness type 76. The test detects:
- Point mutations and single nucleotide variants (SNVs)
- Small insertions and deletions (indels)
- Copy number variations affecting the SYNE4 gene
- Compound heterozygous mutations
- Homozygous pathogenic variants
The SYNE4 gene encodes nesprin-4, a nuclear envelope protein essential for proper hair cell function in the cochlea. Mutations in this gene disrupt the structural integrity of hair cells, leading to progressive sensorineural hearing loss typically beginning in childhood.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals and families experiencing:
- Unexplained childhood-onset hearing loss
- Family history of hereditary deafness
- Progressive sensorineural hearing impairment
- Consanguineous parents with hearing concerns
- Couples planning pregnancy with known genetic risks
- Children with delayed speech development
- Individuals with normal hearing but family history of SYNE4 mutations
Key Benefits of SYNE4 Genetic Testing
Undergoing SYNE4 genetic testing provides numerous advantages for patients and healthcare providers:
- Early Intervention Opportunities: Early detection allows for timely hearing rehabilitation and educational support
- Accurate Diagnosis: Provides definitive genetic confirmation beyond conventional hearing tests
- Family Planning Guidance: Enables informed reproductive decisions and prenatal testing options
- Personalized Treatment Planning: Guides appropriate hearing aid selection and cochlear implant candidacy
- Genetic Counseling Foundation: Supports comprehensive family risk assessment and management
- Research Contribution: Advances understanding of genetic hearing disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and provided with comprehensive guidance:
- Positive Result: Indicates the presence of pathogenic SYNE4 mutations. Our genetic counselors will explain inheritance patterns, recurrence risks, and management recommendations
- Negative Result: No pathogenic variants detected in the SYNE4 gene. However, other genetic or environmental factors may still contribute to hearing loss
- Variant of Uncertain Significance (VUS): Some genetic changes may require additional family studies for proper interpretation
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but typically do not show symptoms
Test Pricing and Sample Requirements
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Accessibility and Professional Support
We maintain comprehensive testing facilities across the United States, with branches in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our team of certified genetic counselors, ENT specialists, and molecular geneticists work collaboratively to ensure you receive the highest quality care and most accurate genetic interpretation.
Before testing, we recommend a genetic counseling session to discuss your clinical history and create a detailed family pedigree. This preliminary assessment helps optimize test selection and ensures comprehensive genetic evaluation.
Take Control of Your Genetic Health Today
Don’t let uncertainty about hereditary hearing loss affect your quality of life. The SYNE4 Gene Deafness Autosomal Recessive Type 76 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. Our advanced NGS technology, combined with expert genetic interpretation, delivers reliable results you can trust.
Ready to schedule your genetic test? Contact our dedicated genetic testing specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing better hearing outcomes for you and your family.
