CABP2 Gene Deafness Autosomal Recessive Type 93 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Hearing Loss
The CABP2 Gene Deafness Autosomal Recessive Type 93 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hereditary hearing disorders. This specialized test utilizes cutting-edge Next-Generation Sequencing technology to analyze the CABP2 gene, which plays a critical role in auditory function. Mutations in this gene are directly linked to autosomal recessive nonsyndromic hearing loss type 93 (DFNB93), a condition characterized by progressive sensorineural hearing impairment typically beginning in childhood.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the CABP2 (Calcium-Binding Protein 2) gene, which encodes a calcium-binding protein essential for proper hair cell function in the inner ear. The test detects:
- Pathogenic variants and mutations in the CABP2 gene sequence
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions, deletions, and frameshift mutations
- Copy number variations impacting gene expression
- Regulatory region abnormalities affecting calcium signaling
Who Should Consider This Test?
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 bilateral hearing impairment
- Consanguineous parentage with hearing loss concerns
- Children with delayed speech development due to hearing issues
- Individuals with normal outer and middle ear structure but impaired hearing
Clinical Benefits and Importance
Early genetic diagnosis through CABP2 testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms genetic etiology of hearing loss, eliminating diagnostic uncertainty
- Proactive Management: Enables early intervention with hearing aids and cochlear implants
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Personalized Treatment: Guides appropriate auditory rehabilitation strategies
- Research Contribution: Advances understanding of genetic hearing disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic CABP2 mutations confirming DFNB93 diagnosis
- Negative Result: Suggests hearing loss may have other genetic or environmental causes
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Identifies individuals with single mutation copies who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| CABP2 Gene Deafness Autosomal Recessive Type 93 NGS Genetic DNA Test – Discount Price | $500 |
| CABP2 Gene Deafness Autosomal Recessive Type 93 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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 state-of-the-art laboratories ensure accurate and reliable results with a standard turnaround time of 3-4 weeks.
Sample Collection and Preparation
Sample requirements for this test include:
- Blood sample (preferred method)
- Extracted DNA sample
- One drop of blood on FTA card
Pre-test Instructions: Please provide complete clinical history of the patient undergoing testing. We strongly recommend a genetic counseling session to develop a comprehensive pedigree chart documenting family members affected by hearing disorders.
Take Control of Your Hearing Health Today
Don’t let genetic hearing loss remain a mystery. Our expert team of genetic specialists and ENT doctors are ready to help you understand your genetic predisposition and develop effective management strategies. Early detection can significantly improve quality of life and hearing outcomes.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book the CABP2 Gene Deafness Autosomal Recessive Type 93 NGS Genetic DNA Test. Take the first step toward understanding your genetic hearing health with our advanced diagnostic services.
