TBC1D24 Gene Deafness Autosomal Recessive Type 86 NGS Genetic DNA Test
Understanding TBC1D24 Gene-Related Hearing Loss
The TBC1D24 Gene Deafness Autosomal Recessive Type 86 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hereditary hearing disorders. This specialized test focuses on identifying mutations in the TBC1D24 gene, which plays a critical role in auditory function and neurological development. When this gene contains specific variations, it can lead to progressive sensorineural hearing loss that typically manifests in childhood or early adulthood.
Autosomal recessive type 86 deafness is characterized by its inheritance pattern, requiring both parents to carry the mutated gene for the condition to manifest in their offspring. The TBC1D24 protein functions in vesicle trafficking and synaptic transmission processes essential for proper inner ear hair cell function. Disruptions in these cellular mechanisms can result in varying degrees of hearing impairment, making early genetic identification crucial for appropriate intervention strategies.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based analysis examines the entire TBC1D24 gene sequence to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Frameshift mutations disrupting protein production
- Missense and nonsense mutations altering protein structure
- Splice site variants affecting mRNA processing
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing unparalleled accuracy in detecting even the most subtle genetic variations. This high-resolution approach ensures comprehensive coverage of the TBC1D24 gene, minimizing the risk of false negatives and providing definitive diagnostic information.
Who Should Consider TBC1D24 Genetic Testing?
Clinical Indications and Symptoms
This genetic test is particularly recommended for individuals presenting with:
- Progressive sensorineural hearing loss beginning in childhood
- Family history of autosomal recessive hearing disorders
- Unexplained hearing impairment without environmental causes
- Consanguineous parental relationships increasing genetic risk
- Early-onset hearing loss with neurological symptoms
- Failed newborn hearing screenings with progressive deterioration
Additionally, couples planning pregnancy with family histories of genetic hearing loss should consider carrier screening to assess their risk of passing TBC1D24 mutations to their children.
Significant Benefits of TBC1D24 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of TBC1D24 gene mutations
- Early Intervention: Enables timely implementation of hearing rehabilitation strategies
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Personalized Management: Facilitates tailored auditory support and monitoring
- Prognostic Information: Helps predict disease progression and severity
- Therapeutic Planning: Guides appropriate hearing aid or cochlear implant considerations
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your TBC1D24 test results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the TBC1D24 gene. This confirmation enables:
- Implementation of appropriate hearing intervention strategies
- Regular audiological monitoring and assessment
- Genetic counseling for family members
- Consideration of early educational support services
Negative Result Interpretation
A negative result suggests that TBC1D24 mutations are not responsible for the hearing loss, directing further investigation toward other genetic or environmental causes.
Variant of Uncertain Significance
In some cases, genetic variations of unknown clinical significance may be identified. Our genetic counselors provide ongoing support as scientific understanding of these variants evolves.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | TBC1D24 Gene Deafness Autosomal Recessive Type 86 NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options available | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Testing Availability
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 collection centers ensures accessible genetic testing services nationwide.
Pre-Test Preparation Requirements
To ensure optimal testing accuracy, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Take Control of Your Genetic Health Today
Don’t let uncertainty about hereditary hearing loss affect your quality of life. Our TBC1D24 Gene Deafness Autosomal Recessive Type 86 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With advanced NGS technology and expert genetic analysis, we deliver reliable results you can trust.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Take the first step toward understanding your genetic hearing health with confidence and precision.
