KRT14 Gene Naegeli-Franceschetti-Jadassohn Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Dermatological Conditions
The KRT14 Gene Naegeli-Franceschetti-Jadassohn Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare ectodermal disorders. This advanced testing methodology utilizes next-generation sequencing technology to provide precise identification of mutations in the KRT14 gene, which plays a crucial role in skin integrity and epithelial tissue development.
What This Test Detects
Our comprehensive genetic analysis specifically targets the KRT14 gene, which encodes keratin 14 – a fundamental structural protein essential for maintaining skin strength and resilience. Mutations in this gene disrupt normal skin development and function, leading to the characteristic features of Naegeli-Franceschetti-Jadassohn syndrome.
- Detection of pathogenic variants in the KRT14 gene
- Identification of autosomal dominant inheritance patterns
- Analysis of mutation types including missense, nonsense, and frameshift variants
- Assessment of genetic risk for family members
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of Naegeli-Franceschetti-Jadassohn syndrome or related ectodermal dysplasia conditions:
- Reticulate skin pigmentation patterns appearing in early childhood
- Reduced sweating ability (hypohidrosis) leading to heat intolerance
- Thickened skin on palms and soles (palmoplantar keratoderma)
- Dental abnormalities including enamel defects and early tooth loss
- Nail dystrophy and abnormalities
- Family history of similar dermatological conditions
- Unexplained skin fragility or blistering
Clinical Benefits of Genetic Testing
Undergoing the KRT14 genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Naegeli-Franceschetti-Jadassohn syndrome with high precision
- Personalized Management: Enables targeted treatment approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of potential complications
- Differential Diagnosis: Helps distinguish from other similar genetic skin disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
- Positive Result: Indicates the presence of a pathogenic KRT14 mutation, confirming the diagnosis of Naegeli-Franceschetti-Jadassohn syndrome
- Negative Result: Suggests that KRT14 mutations are not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry the mutation without showing symptoms
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood Spot on FTA Card |
Nationwide Accessibility
We have diagnostic centers conveniently located across major metropolitan areas throughout the United States, including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures that comprehensive genetic testing is accessible to patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our specialized genetic counselors and dermatology experts are ready to guide you through the testing process and help interpret your results. Contact us today to schedule your genetic test and take control of your health journey.
Call or WhatsApp us at +1(267) 388-9828 to book your KRT14 genetic test appointment today!
