MBTPS2 Gene Ichthyosis Follicularis Atricia and Photophobia Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Dermatological Disorders
The MBTPS2 Gene Ichthyosis Follicularis Atricia and Photophobia Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the MBTPS2 gene, which is responsible for a rare X-linked genetic disorder characterized by distinctive skin, hair, and eye abnormalities. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide precise detection of pathogenic variants, enabling accurate diagnosis and informed clinical management.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the MBTPS2 gene located on the X chromosome, analyzing the entire coding region and adjacent intronic boundaries to identify:
- Pathogenic mutations in the MBTPS2 gene associated with IFAP syndrome
- Single nucleotide variants (SNVs) and small insertions/deletions
- Genetic variations affecting protein function and cholesterol homeostasis
- X-linked inheritance patterns crucial for family counseling
The test employs sophisticated bioinformatics pipelines to ensure high sensitivity and specificity in mutation detection, providing clinicians with reliable genetic information for diagnosis confirmation.
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with the following clinical features:
- Dermatological Symptoms: Severe ichthyosis (fish-scale skin), follicular hyperkeratosis, and congenital atrichia (absence of hair)
- Ophthalmological Manifestations: Extreme photophobia (light sensitivity), corneal opacities, and recurrent eye infections
- Family History: Individuals with family members diagnosed with IFAP syndrome or similar dermatological conditions
- Unexplained Symptoms: Patients with complex skin and eye symptoms without clear diagnosis
- Reproductive Planning: Couples with family history of X-linked genetic disorders
Clinical Benefits of MBTPS2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out IFAP syndrome with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management of associated complications
- Differential Diagnosis: Helps distinguish IFAP syndrome from other similar conditions
- Prognostic Information: Offers insights into disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic mutation in the MBTPS2 gene, confirming IFAP syndrome diagnosis
- Negative Result: Suggests absence of known pathogenic variants, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: For female relatives, determines carrier status for X-linked inheritance counseling
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | MBTPS2 Gene Ichthyosis Follicularis Atricia and Photophobia Syndrome 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 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services 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, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of IFAP syndrome or have concerns about genetic inheritance patterns, our specialized MBTPS2 genetic testing can provide the answers you need. Our team of genetic counselors and dermatology specialists are available to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Take control of your genetic health with our comprehensive, reliable, and affordable testing services.
