IKBKG Gene Ectodermal Dysplasia Hypohidrotic with Immune Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Condition
The IKBKG Gene Ectodermal Dysplasia Hypohidrotic with Immune Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the IKBKG gene, which plays a crucial role in the NF-kappa-B signaling pathway. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate detection of genetic variations associated with a rare inherited disorder affecting multiple body systems.
What This Advanced Genetic Test Detects
This specialized DNA test specifically targets mutations in the IKBKG gene, also known as NEMO (NF-kappa-B essential modulator). The test identifies:
- Point mutations, deletions, and insertions in the IKBKG gene
- Genetic variations affecting NF-kappa-B signaling pathway
- Mutations responsible for X-linked ectodermal dysplasia with immunodeficiency
- Genetic markers associated with impaired immune function and ectodermal development
Who Should Consider This Genetic Test?
This comprehensive genetic analysis is recommended for individuals presenting with specific clinical symptoms or family history patterns:
Clinical Indications and Symptoms
- Infants and children with sparse scalp and body hair
- Individuals with conical or peg-shaped teeth
- Patients experiencing heat intolerance due to reduced sweating ability
- Those with recurrent bacterial, viral, or fungal infections
- Individuals with characteristic facial features including prominent forehead and lips
- Patients with family history of ectodermal dysplasia or immune deficiencies
- Unexplained failure to thrive in infancy
- History of severe infections requiring hospitalization
Significant Benefits of Genetic Testing
Undergoing the IKBKG Gene NGS Test provides numerous advantages for patients and families:
Diagnostic and Management Benefits
- Accurate Diagnosis: Provides definitive genetic confirmation of the condition
- Early Intervention: Enables prompt implementation of appropriate management strategies
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides targeted treatment approaches based on specific genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Carrier Detection: Identifies asymptomatic carriers within families
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results effectively:
Result Interpretation Guidance
- Positive Result: Indicates presence of pathogenic mutation in IKBKG gene, confirming diagnosis
- Negative Result: Suggests absence of detectable mutations in tested regions
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms
All results are accompanied by detailed explanations from our certified genetic counselors, who provide personalized guidance on next steps, management recommendations, and family implications.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | IKBKG Gene Ectodermal Dysplasia Hypohidrotic with Immune Deficiency NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Convenient Testing Locations Across USA
We have established branches in all major cities throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our nationwide network ensures accessible genetic testing services for patients across the country.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our comprehensive IKBKG Gene NGS Test provides the answers you need for informed healthcare decisions. With advanced technology, expert genetic counseling, and competitive pricing at $500 USD, you can gain valuable insights into your genetic health.
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.
