GJB2 Gene Keratitis Ichthyosis Deafness Syndrome Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Analysis for KID Syndrome
The GJB2 Gene Keratitis Ichthyosis Deafness (KID) Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying this rare autosomal dominant genetic disorder. This comprehensive test utilizes next-generation sequencing technology to analyze the GJB2 gene, which encodes connexin 26, a crucial protein involved in cell-to-cell communication. Mutations in this gene disrupt normal cellular function, leading to the characteristic triad of symptoms that define KID syndrome.
What Does This Test Detect?
This advanced genetic test specifically identifies mutations in the GJB2 gene that are responsible for Keratitis Ichthyosis Deafness syndrome. The test measures:
- Point mutations and small insertions/deletions in the GJB2 gene coding region
- Specific genetic variants associated with autosomal dominant inheritance patterns
- Mutations affecting connexin 26 protein structure and function
- Genetic markers that correlate with disease severity and progression
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of KID syndrome or those with a family history of the condition. Key indications include:
- Newborns or children with congenital sensorineural hearing loss
- Individuals with progressive skin changes resembling ichthyosis
- Patients experiencing recurrent eye inflammation (keratitis)
- Those with a family history of KID syndrome or related genetic disorders
- Individuals with unexplained combinations of skin, eye, and hearing abnormalities
Clinical Benefits of Genetic Testing
Undergoing the GJB2 Gene KID Syndrome test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out KID syndrome with high precision
- Early Intervention: Enables timely management of symptoms before complications develop
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors. Possible outcomes include:
- Positive Result: Identifies a pathogenic mutation in the GJB2 gene, confirming KID syndrome diagnosis
- Negative Result: No disease-causing mutations detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
All results include comprehensive interpretation and recommendations for next steps in clinical management.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
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 state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Schedule Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care. Our experienced genetic specialists are ready to assist you with comprehensive testing and counseling services. Contact us today to schedule your appointment or learn more about our genetic testing options.
Call or WhatsApp: +1(267) 388-9828
Our dedicated team will guide you through the testing process, answer your questions, and help you understand how genetic testing can benefit your health journey.
