CIB2 Gene Deafness Autosomal Recessive Type 48 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Hearing Loss
The CIB2 Gene Deafness Autosomal Recessive Type 48 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hereditary hearing disorders. This advanced Next-Generation Sequencing (NGS) test specifically targets mutations in the CIB2 gene, which plays a critical role in calcium and integrin-binding protein function essential for proper auditory system development and maintenance. Autosomal recessive type 48 deafness is characterized by progressive or congenital hearing impairment that can significantly impact quality of life if left undiagnosed and untreated.
What Does This Test Measure and Detect?
This sophisticated genetic analysis utilizes state-of-the-art NGS technology to:
- Identify specific mutations in the CIB2 gene associated with autosomal recessive deafness type 48
- Detect both known and novel genetic variants that may cause hearing impairment
- Analyze the complete coding regions and splice sites of the CIB2 gene
- Provide comprehensive variant interpretation with clinical significance assessment
- Offer carrier status determination for family planning purposes
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Unexplained congenital or early-onset hearing loss
- Progressive hearing impairment without clear environmental causes
- Family history of hereditary deafness or hearing disorders
- Children with delayed speech development due to hearing issues
- Couples planning pregnancy with family history of genetic hearing conditions
- Individuals from populations with higher prevalence of CIB2 gene mutations
- Patients with syndromic features alongside hearing loss
Key Benefits of CIB2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Detection and Intervention: Identify genetic predisposition to hearing loss before significant impairment occurs
- Personalized Treatment Planning: Develop targeted management strategies based on specific genetic findings
- Family Planning Guidance: Make informed reproductive decisions with carrier status information
- Accurate Diagnosis: Differentiate between genetic and environmental causes of hearing loss
- Proactive Monitoring: Implement appropriate surveillance and preventive measures
- Genetic Counseling Support: Access professional guidance for result interpretation and family implications
Understanding Your Test Results
Your genetic test report will provide comprehensive information including:
- Positive Result: Indicates presence of CIB2 gene mutations associated with deafness, requiring consultation with ENT specialists and genetic counselors
- Negative Result: Suggests absence of tested CIB2 mutations, though other genetic or environmental factors may still contribute to hearing issues
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring ongoing monitoring and potential family studies
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning considerations
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CIB2 Gene Deafness Autosomal Recessive Type 48 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | ENT Doctor |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Ear Nose Throat Disorders |
Pre-Test Instructions
Before undergoing testing, we recommend:
- Providing complete clinical history of hearing-related symptoms
- Participating in genetic counseling to create detailed family pedigree
- Documenting family members affected by hearing disorders
- Discussing testing implications with healthcare providers
- Understanding potential outcomes and their significance
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Hearing Health Today
Don’t let uncertainty about hereditary hearing conditions affect your quality of life. Our CIB2 Gene Deafness Autosomal Recessive Type 48 NGS Genetic DNA Test provides the clarity and information you need to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your genetic predisposition to hearing disorders.
Call us now at +1(267) 388-9828 to schedule your genetic test or book your appointment online. Our genetic counselors and ENT specialists are ready to help you understand your hearing health and develop personalized management strategies based on your unique genetic profile.
