CDH23 Gene Deafness Autosomal Recessive Type 12 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Hearing Loss
The CDH23 Gene Deafness Autosomal Recessive Type 12 NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing hereditary hearing disorders. This advanced genetic test specifically targets mutations in the CDH23 (cadherin-23) gene, which plays a critical role in the development and function of hair cells in the inner ear. When mutations occur in this gene, they disrupt the proper formation of stereocilia connections, leading to progressive sensorineural hearing loss that typically begins in childhood.
What Does This Test Measure and Detect?
Our comprehensive NGS-based test analyzes the entire CDH23 gene sequence to identify:
- Point mutations and single nucleotide variants (SNVs)
- Insertions and deletions (indels) affecting gene function
- Copy number variations (CNVs) in the CDH23 region
- Novel mutations not previously documented in genetic databases
- Compound heterozygous mutations in autosomal recessive inheritance patterns
Who Should Consider This Test?
This genetic test is particularly recommended for:
- Individuals with unexplained congenital or childhood-onset hearing loss
- Patients with progressive sensorineural hearing impairment
- Families with history of autosomal recessive hearing disorders
- Couples planning pregnancy with family history of genetic deafness
- Children diagnosed with Usher syndrome type 1D
- Individuals with vestibular dysfunction accompanying hearing loss
Clinical Symptoms and Indications
Common symptoms that may indicate CDH23 gene mutations include:
- Progressive bilateral sensorineural hearing loss beginning in early childhood
- High-frequency hearing impairment that gradually affects other frequencies
- Vestibular abnormalities and balance issues
- Family history of congenital deafness without other syndromic features
- Delayed speech development in children
- Hearing loss that worsens over time despite conventional treatments
Benefits of CDH23 Genetic Testing
Undergoing CDH23 gene testing provides numerous advantages for patients and families:
Early Intervention and Management
Early genetic diagnosis enables timely implementation of hearing aids, cochlear implants, and communication strategies. Knowing the specific genetic cause allows for personalized auditory rehabilitation programs and appropriate educational support.
Accurate Prognosis and Treatment Planning
Understanding the genetic basis of hearing loss helps predict disease progression and guides treatment decisions. This knowledge assists ENT specialists in developing targeted management strategies and setting realistic expectations for hearing preservation.
Family Planning and Genetic Counseling
Identification of CDH23 mutations provides crucial information for family planning decisions. Couples can understand their risk of passing hearing loss to future children and explore reproductive options, including preimplantation genetic diagnosis.
Comprehensive Genetic Analysis
Our NGS technology offers superior detection capabilities compared to traditional methods. The test covers the entire CDH23 gene with 99.9% accuracy, ensuring no significant mutations are missed during analysis.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the CDH23 gene. This confirms the genetic diagnosis of autosomal recessive deafness type 12. Our genetic counselors will provide detailed explanations about:
- Specific mutation types and their clinical significance
- Expected progression of hearing loss
- Recommended interventions and monitoring schedule
- Reproductive risks and family testing recommendations
Negative Result Interpretation
A negative result suggests that no pathogenic CDH23 mutations were detected. However, this doesn’t completely rule out genetic causes of hearing loss, as mutations in other genes or complex inheritance patterns may be involved. Further testing may be recommended based on clinical presentation.
Variant of Uncertain Significance (VUS)
Some genetic changes may be classified as VUS, meaning their clinical impact is currently unknown. In such cases, we provide guidance on monitoring and may recommend family studies to help determine significance.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | CDH23 Gene Deafness Autosomal Recessive Type 12 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | ENT Doctor, Genetics Department |
| Disease Category | Ear Nose Throat Disorders |
Pre-Test Requirements and Preparation
Before undergoing CDH23 genetic testing, we recommend:
- Comprehensive clinical history documentation of hearing symptoms
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Audiological evaluation to document current hearing status
- Discussion of potential results and their impact on family members
Nationwide Availability and Convenience
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and ENT specialists ensures you receive comprehensive care regardless of your location.
Take Control of Your Hearing Health Today
Don’t let unexplained hearing loss affect your quality of life. Our CDH23 genetic test provides definitive answers and empowers you with knowledge for better health management. Early genetic diagnosis can significantly improve outcomes and help you make informed decisions about treatment and family planning.
Ready to schedule your CDH23 genetic 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 the first step toward understanding your genetic hearing health. Call now to schedule your comprehensive CDH23 genetic analysis and receive personalized results within 3-4 weeks.
