CYP4F22 Gene Ichthyosis Lamellar Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Lamellar Ichthyosis
The CYP4F22 Gene Ichthyosis Lamellar Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare dermatological conditions. This advanced test specifically targets mutations in the CYP4F22 gene, which plays a crucial role in skin barrier function and lipid metabolism. Lamellar ichthyosis type 3 is an autosomal recessive disorder characterized by severe scaling and skin abnormalities that can significantly impact quality of life.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the CYP4F22 gene to identify:
- Pathogenic variants and mutations in the CYP4F22 gene
- Single nucleotide polymorphisms associated with lamellar ichthyosis
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations causing autosomal recessive inheritance
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Persistent generalized scaling and skin thickening from birth
- Collodion membrane at birth that persists or resolves with complications
- Family history of lamellar ichthyosis or consanguineous parents
- Ectropion (eyelid turning outward) and eclabium (lip eversion)
- Palmoplantar keratoderma and impaired sweating
- Recurrent skin infections and temperature regulation issues
Significant Benefits of Genetic Testing
Undergoing the CYP4F22 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms lamellar ichthyosis type 3 with genetic certainty
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic profile
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic skin disorders
Understanding Your Test Results
Our comprehensive genetic report includes:
- Detailed analysis of CYP4F22 gene variants with clinical interpretation
- Classification of mutations as pathogenic, likely pathogenic, or variants of uncertain significance
- Correlation between genetic findings and clinical manifestations
- Recommendations for follow-up care and specialist consultations
- Genetic counseling guidance for family members
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of testing implications with a qualified genetic counselor
- Understanding of potential outcomes and their medical significance
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your genetic health hold you back. Our CYP4F22 Gene Ichthyosis Lamellar Type 3 NGS Genetic DNA Test provides the answers you need for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
