GJB2 Gene Deafness with Keratopachydermia and Constrictions of Fingers and Toes NGS Genetic DNA Test
Understanding GJB2 Gene-Related Disorders
The GJB2 Gene Deafness with Keratopachydermia and Constrictions of Fingers and Toes NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying a rare genetic condition that affects multiple body systems. This comprehensive test focuses on mutations in the GJB2 gene, which encodes connexin 26 – a crucial protein involved in gap junction communication between cells. When this gene malfunctions, it can lead to a complex syndrome characterized by hearing impairment, skin abnormalities, and digital constrictions.
What This Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the GJB2 gene to identify:
- Point mutations, deletions, and insertions in the GJB2 gene
- Specific genetic variants associated with keratopachydermia (thickened skin)
- Mutations linked to finger and toe constrictions
- Genetic markers for progressive hearing loss
- Inheritance patterns (autosomal dominant or recessive)
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals experiencing:
- Progressive hearing loss, particularly congenital or early-onset deafness
- Thickened, leathery skin (keratopachydermia) on palms and soles
- Constrictions or band-like formations around fingers and toes
- Family history of similar symptoms across generations
- Unexplained combination of hearing and skin/digit abnormalities
- Children with developmental delays and hearing impairment
Clinical Benefits of Genetic Testing
Undergoing the GJB2 gene test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms
- Treatment Guidance: Informs appropriate management strategies
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Enables proactive management of hearing loss
- Differential Diagnosis: Helps distinguish from other similar conditions
- Prognostic Information: Offers insights into disease progression
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of GJB2 gene mutations associated with the condition
- Negative Result: Suggests absence of tested mutations, though other genetic factors may be involved
- Variant of Uncertain Significance: Requires further clinical correlation and possibly family testing
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | GJB2 Gene Deafness with Keratopachydermia and Constrictions of Fingers and Toes 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 |
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 other cities. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our specialized GJB2 gene testing provides clarity and direction for managing this complex condition. With advanced NGS technology and expert genetic counseling, we deliver accurate, reliable results that can transform your healthcare journey.
Ready to schedule your test? Call our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and making informed decisions about your care.
