PCDH15 Gene Deafness Autosomal Recessive Type 23 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Hearing Loss
The PCDH15 Gene Deafness Autosomal Recessive Type 23 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for hereditary hearing disorders. This sophisticated test utilizes next-generation sequencing technology to analyze the PCDH15 gene, which plays a critical role in the development and function of the inner ear. Mutations in this gene are specifically associated with autosomal recessive nonsyndromic hearing loss type 23 (DFNB23), a condition characterized by progressive sensorineural hearing impairment that typically begins in childhood or early adulthood.
What Does This Test Measure and Detect?
This comprehensive genetic analysis specifically targets the PCDH15 gene to identify pathogenic variants that cause autosomal recessive hearing loss. The test detects:
- Point mutations, insertions, and deletions in the PCDH15 gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Copy number variations and structural rearrangements
- Compound heterozygous mutations in affected individuals
- Carrier status for family members and relatives
The PCDH15 gene encodes protocadherin-15, a protein essential for the proper formation and maintenance of stereocilia in hair cells of the inner ear. These hair cells are responsible for converting sound vibrations into electrical signals that the brain interprets as sound. When PCDH15 mutations disrupt this process, it leads to progressive degeneration of hair cells and subsequent hearing loss.
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals experiencing:
- Progressive sensorineural hearing loss beginning in childhood or early adulthood
- Family history of autosomal recessive hearing disorders
- Unexplained hearing impairment with normal physical examination
- Consanguineous parents or family background
- Planning for pregnancy with family history of genetic hearing loss
- Children with delayed speech development due to hearing issues
- Individuals from populations with higher carrier frequencies for PCDH15 mutations
Clinical Benefits of PCDH15 Genetic Testing
Undergoing this genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms the genetic basis of hearing loss, eliminating diagnostic uncertainty
- Early Intervention: Enables timely implementation of hearing aids, cochlear implants, or other interventions
- Genetic Counseling: Provides essential information for family planning and reproductive decisions
- Carrier Testing: Identifies asymptomatic carriers within the family
- Personalized Management: Guides appropriate educational and therapeutic approaches
- Prognostic Information: Helps predict the progression and severity of hearing loss
- Research Contribution: Contributes to scientific understanding of genetic hearing disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists:
- Positive Result: Identification of two pathogenic mutations confirms the diagnosis of DFNB23. This result provides definitive genetic confirmation 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.
- Negative Result: No pathogenic mutations detected suggests that PCDH15-related hearing loss is unlikely, though other genetic causes should be considered.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical significance, requiring additional family studies or research.
All positive results include comprehensive genetic counseling to help you understand the implications for your health and family planning.
Test Pricing and Sample Requirements
| Test Feature | Details |
|---|---|
| Test Name | PCDH15 Gene Deafness Autosomal Recessive Type 23 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 Preparation and Requirements
Before undergoing testing, we recommend:
- Providing complete clinical history of hearing symptoms and progression
- Participating in a genetic counseling session to discuss testing implications
- Creating a detailed pedigree chart of family members with hearing disorders
- Understanding the potential outcomes and limitations of genetic testing
- Discussing insurance coverage and payment options with our billing specialists
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 testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your hearing health continue. The PCDH15 Gene Deafness Autosomal Recessive Type 23 NGS Genetic DNA Test provides definitive answers that can transform your approach to hearing management and family planning. Our team of ENT specialists and genetic counselors are ready to guide you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with confidence and clarity.
