MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Skin Disorders
The MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans X-Linked 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 skin disorder. This condition, known as keratosis follicularis spinulosa declavans (KFSD), affects multiple body systems including skin, hair, and immune function. Our advanced genetic testing provides definitive answers for patients and families affected by this challenging condition.
What Does This Test Measure?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the MBTPS2 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the MBTPS2 gene
- X-linked inheritance pattern confirmation
- Genetic markers associated with keratosis follicularis spinulosa declavans
- Variants affecting membrane-bound transcription factor peptidase, site 2 function
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Characteristic follicular hyperkeratosis (rough, bumpy skin)
- Sparse or absent scalp and body hair
- Palmoplantar keratoderma (thickened skin on palms and soles)
- Family history of X-linked skin disorders
- Recurrent skin infections or immune system abnormalities
- Unexplained dermatological conditions in male family members
- Developmental delays associated with skin abnormalities
Key Benefits of MBTPS2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out MBTPS2-related disorders with high accuracy
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Early Intervention: Facilitates proactive management of associated symptoms
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Helps advance understanding of rare genetic skin conditions
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates presence of pathogenic MBTPS2 mutation, confirming diagnosis of X-linked keratosis follicularis spinulosa declavans
- Negative Result: Suggests absence of detectable MBTPS2 mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for female relatives regarding X-linked inheritance
Next Steps After Testing
Based on your results, our genetic counselors will provide:
- Detailed explanation of genetic findings
- Referral to appropriate specialists (dermatologists, immunologists)
- Family testing recommendations
- Management strategies for associated symptoms
- Long-term monitoring guidelines
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans X-Linked NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Dermatology, Genetics |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Insurance pre-authorization when applicable
Nationwide Testing Availability
We have conveniently located branches across the United States, serving patients in all major metropolitan areas 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 accessible, high-quality care for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic skin conditions affect your quality of life. Our MBTPS2 genetic test provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can gain valuable insights into your genetic health.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.
Take control of your genetic health with the MBTPS2 Gene Keratosis Follicularis Spinulosa Declavans X-Linked NGS Genetic DNA Test – your pathway to accurate diagnosis and personalized care.
