KRT16 Gene Pachyonychia Congenita Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin and Nail Disorders
The KRT16 Gene Pachyonychia Congenita Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare dermatological conditions. This advanced genetic analysis utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the KRT16 gene, which is responsible for Pachyonychia Congenita Type 1 – a rare autosomal dominant disorder affecting skin, nails, and mucous membranes.
What Does This Test Measure and Detect?
This comprehensive genetic test specifically targets and analyzes the KRT16 gene located on chromosome 17q21.2. The test detects:
- Point mutations in the KRT16 gene coding regions
- Small insertions and deletions affecting keratin 16 protein structure
- Genetic variants that disrupt intermediate filament assembly
- Mutations leading to abnormal keratinocyte differentiation
- Specific pathogenic variants associated with PC-1 phenotype
The test provides definitive molecular confirmation of Pachyonychia Congenita Type 1, distinguishing it from other similar conditions and enabling precise genetic counseling.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical features:
- Nail Abnormalities: Progressive thickening and discoloration of fingernails and toenails
- Palmoplantar Keratoderma: Painful thickening of skin on palms and soles
- Oral Leukokeratosis: White patches on tongue and oral mucosa
- Follicular Keratosis: Bumps around hair follicles on elbows and knees
- Family History: Individuals with family members diagnosed with PC-1
- Early Onset Symptoms: Children or adolescents developing characteristic signs
- Differential Diagnosis: Patients with unclear dermatological presentations
Clinical Benefits of Genetic Testing
Undergoing the KRT16 genetic test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms PC-1 diagnosis with molecular precision
- Genetic Counseling: Enables informed family planning decisions
- Personalized Treatment: Guides targeted therapeutic approaches
- Symptom Management: Helps develop effective symptom control strategies
- Prognostic Information: Provides insight into disease progression
- Research Participation: Facilitates enrollment in clinical trials
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Identifies a pathogenic mutation in KRT16 gene confirming PC-1 diagnosis
- Negative Result: No mutation detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact
- Carrier Status: Determines if you carry the mutation without full disease expression
Our genetic counselors will provide comprehensive interpretation of your results and discuss implications for you and your family members.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | KRT16 Gene Pachyonychia Congenita Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Types | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of test implications and potential outcomes
- Informed consent process
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, San Jose, and many more. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your symptoms continue. The KRT16 Gene Pachyonychia Congenita Type 1 NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. Our team of genetic specialists, dermatologists, and counselors are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward definitive diagnosis and personalized care.
