IKBKG Gene Incontinentia Pigmenti Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Incontinentia Pigmenti
The IKBKG Gene Incontinentia Pigmenti Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited disorders. This advanced testing method utilizes Next-Generation Sequencing technology to analyze the IKBKG gene, which plays a critical role in the NF-kappa-B signaling pathway essential for immune response regulation and cell survival. Incontinentia Pigmenti, also known as Bloch-Sulzberger syndrome, is an X-linked dominant condition that primarily affects females and is typically lethal in males during embryonic development.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the IKBKG gene located on the X chromosome (Xq28). This test identifies:
- Point mutations and small insertions/deletions in the IKBKG gene
- Large genomic rearrangements affecting gene function
- Specific mutations associated with Incontinentia Pigmenti Type 2
- Genetic variations that disrupt NF-kappa-B signaling pathway
- X-chromosome inactivation patterns in female carriers
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Newborns or infants with characteristic vesicular skin lesions following Blaschko’s lines
- Individuals with hyperpigmented whorled or marbled skin patterns
- Patients with dental abnormalities including missing or peg-shaped teeth
- Those experiencing alopecia (hair loss) or nail dystrophy
- Individuals with ocular abnormalities such as retinal detachment or strabismus
- Patients with neurological symptoms including seizures or developmental delay
- Family history of Incontinentia Pigmenti or related genetic disorders
- Unexplained skin, bone, or immune system abnormalities
Clinical Benefits of Genetic Testing
Undergoing the IKBKG Gene Incontinentia Pigmenti Type 2 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Incontinentia Pigmenti with high precision
- Early Intervention: Enables proactive management of potential complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Multidisciplinary Care: Facilitates coordinated care among dermatologists, geneticists, and other specialists
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your IKBKG gene status:
- Positive Result: Indicates the presence of a pathogenic mutation in the IKBKG gene, confirming diagnosis of Incontinentia Pigmenti
- Negative Result: Suggests absence of detectable mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
All results are accompanied by detailed interpretation from our board-certified genetic specialists and genetic counselors to ensure comprehensive understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | IKBKG Gene Incontinentia Pigmenti Type 2 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements and Genetic Counseling
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of potential implications and limitations of testing
- Informed consent process explaining benefits and risks
Nationwide Testing Availability
We proudly offer the IKBKG Gene Incontinentia Pigmenti Type 2 NGS Genetic DNA Test 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 cities. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our specialized genetic testing provides the answers you need for informed medical care and family planning. With our discounted price of only $500 USD, comprehensive genetic analysis is more accessible than ever.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
