DIAPH3 Gene Auditory Neuropathy Autosomal Dominant NGS Genetic DNA Test
Understanding DIAPH3 Gene Auditory Neuropathy
Auditory neuropathy is a complex hearing disorder where sound enters the inner ear normally but is disrupted as it travels to the brain. The DIAPH3 gene plays a crucial role in the development and function of auditory nerve cells, and mutations in this gene can lead to autosomal dominant auditory neuropathy spectrum disorder (ANSD). This condition affects the synchronization of neural signals from the inner ear to the brain, resulting in hearing difficulties despite normal outer hair cell function.
What This Test Measures
Our advanced NGS genetic DNA test specifically analyzes the DIAPH3 gene for mutations associated with auditory neuropathy. The test examines:
- Complete sequencing of the DIAPH3 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of autosomal dominant inheritance patterns
- Assessment of genetic variants affecting auditory nerve function
- Comprehensive analysis of gene expression patterns
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive hearing loss with normal outer hair cell function
- Difficulty understanding speech despite normal hearing thresholds
- Family history of hereditary hearing disorders
- Unexplained auditory processing difficulties
- Children with delayed speech development and hearing concerns
- Individuals with fluctuating hearing abilities
- Patients with normal otoacoustic emissions but abnormal auditory brainstem responses
Clinical Indications and Symptoms
Common symptoms that may indicate DIAPH3-related auditory neuropathy include:
- Difficulty understanding speech in noisy environments
- Inconsistent responses to sound stimuli
- Poor speech discrimination despite normal pure-tone thresholds
- Progressive hearing deterioration over time
- Family patterns of similar hearing difficulties
- Normal cochlear function with abnormal neural responses
Benefits of DIAPH3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Identify genetic predisposition before significant hearing loss occurs
- Personalized Treatment: Develop targeted intervention strategies based on genetic findings
- Family Planning: Understand inheritance patterns for future family decisions
- Accurate Prognosis: Predict disease progression and potential complications
- Targeted Management: Implement appropriate hearing rehabilitation approaches
- Genetic Counseling: Provide comprehensive family risk assessment
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of DIAPH3 gene mutation associated with auditory neuropathy. This confirms the genetic basis of hearing symptoms and enables targeted management strategies.
- Negative Result: Suggests that DIAPH3 mutations are not responsible for the hearing concerns, allowing investigation of other potential causes.
- Variant of Uncertain Significance: Some genetic variations may require additional family studies or research to determine clinical significance.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | DIAPH3 Gene Auditory Neuropathy Autosomal Dominant 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our state-of-the-art genetic testing facilities ensure accurate and reliable results nationwide.
Schedule Your Genetic Consultation
Take the first step toward understanding your genetic hearing health. Our team of certified genetic counselors and ENT specialists are available to discuss your concerns and guide you through the testing process. Contact us today to schedule your comprehensive genetic evaluation.
Call or WhatsApp: +1(267) 388-9828
Book Your Test Today and Take Control of Your Hearing Health!
