TPRN Gene Deafness Autosomal Recessive Type 79 NGS Genetic DNA Test
Understanding TPRN Gene-Related Hearing Loss
The TPRN Gene Deafness Autosomal Recessive Type 79 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hereditary hearing disorders. This specialized test focuses on identifying mutations in the TPRN (taperin) gene, which plays a crucial role in maintaining the structural integrity and function of hair cells in the inner ear. When mutations occur in this gene, they disrupt normal auditory function, leading to progressive sensorineural hearing loss that typically manifests in childhood or early adulthood.
Autosomal recessive type 79 deafness is characterized by bilateral hearing impairment that affects both ears symmetrically. The condition follows an autosomal recessive inheritance pattern, meaning both copies of the TPRN gene must carry mutations for the disorder to manifest. This comprehensive genetic analysis provides critical information for accurate diagnosis, prognosis, and personalized management strategies for affected individuals and their families.
What the Test Detects and Measures
Our advanced NGS-based genetic test specifically targets:
- Complete sequencing of the TPRN gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
- Analysis of known disease-causing mutations associated with autosomal recessive deafness
- Identification of novel genetic variants with potential clinical significance
- Comprehensive coverage of coding regions, splice sites, and regulatory elements
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing unparalleled accuracy and sensitivity in detecting even rare genetic variants that conventional methods might miss. This comprehensive approach ensures thorough evaluation of the TPRN gene’s entire coding sequence and adjacent regulatory regions.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Progressive bilateral sensorineural hearing loss beginning in childhood
- Family history of autosomal recessive hearing disorders
- Unexplained hearing impairment with normal otoscopic examination
- Consanguineous parents or known carrier status in the family
- Children with delayed speech development due to hearing difficulties
- Individuals planning pregnancy with family history of genetic hearing loss
- Patients with suspected genetic syndromes involving auditory dysfunction
Special Considerations
The test is especially valuable for couples from ethnic groups with higher prevalence of autosomal recessive hearing disorders and for families with multiple affected members across generations. Early genetic testing can facilitate timely intervention and appropriate educational support.
Benefits of TPRN Genetic Testing
Undergoing TPRN gene testing offers numerous advantages:
- Accurate Diagnosis: Provides definitive identification of genetic cause for hearing loss
- Personalized Treatment Planning: Enables targeted interventions and hearing rehabilitation strategies
- Reproductive Guidance: Informs family planning decisions and prenatal testing options
- Early Intervention: Facilitates timely hearing aid fitting or cochlear implantation when appropriate
- Genetic Counseling: Supports informed decision-making for affected individuals and family members
- Prognostic Information: Helps predict disease progression and potential associated features
- Research Contribution: Advances understanding of genetic hearing disorders
Understanding Your Test Results
Possible Outcomes and Their Meanings
Your genetic test results will fall into one of several categories:
Positive Result
Identification of two pathogenic mutations in the TPRN gene confirms the diagnosis of autosomal recessive deafness type 79. This result provides clarity about the genetic basis of hearing loss and enables targeted management strategies.
Carrier Status
Detection of a single pathogenic mutation indicates carrier status. Carriers typically have normal hearing but can pass the mutation to their children. This information is crucial for reproductive planning.
Negative Result
No pathogenic mutations detected in the TPRN gene suggests that the hearing loss may have a different genetic cause or environmental origin. Further genetic testing may be recommended.
Variant of Uncertain Significance (VUS)
Identification of genetic changes with unknown clinical significance. These findings require careful interpretation by genetic specialists and may need family studies for clarification.
Post-Test Guidance
All results are accompanied by comprehensive genetic counseling to ensure proper understanding and appropriate next steps. Our genetic specialists will help you interpret the findings and discuss implications for medical management, family planning, and potential therapeutic interventions.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TPRN Gene Deafness Autosomal Recessive Type 79 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 |
| Specialty | ENT Doctor / Genetics Department |
Pre-Test Requirements and Preparation
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree analysis to identify inheritance patterns
- Review of previous audiological evaluations and medical records
- Discussion of insurance coverage and financial considerations
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your hearing health continue. Our TPRN Gene Deafness Autosomal Recessive Type 79 NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With our special discounted price of $500 USD and comprehensive genetic counseling support, you can gain valuable insights into your genetic profile and hearing health.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take control of your hearing health journey with advanced genetic testing from America’s trusted genetics laboratory. Early detection and accurate diagnosis can make a significant difference in treatment outcomes and quality of life.
