Test Price
2,800 AED✅ Home Collection Available
MBTPS2 Gene Analysis (Keratosis Follicularis Spinulosa Decalvans, X-Linked) in UAE | 2800 AED | DHA Licensed Lab
Executive Summary: Accurate genetic test for diagnosing X-linked Keratosis Follicularis Spinulosa Decalvans with 99.9% sensitivity, comprehensive variant detection, and post-test genetic counselling. Full compliance with UAE Personal Data Protection Law (PDPL) and health regulations.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test screens the entire coding region and splice‑site boundaries of the MBTPS2 gene for pathogenic variants associated with X-linked Keratosis Follicularis Spinulosa Decalvans, a rare genodermatosis. Full gene coverage enables the detection of point mutations, small insertions/deletions, and copy number variants for definitive diagnosis and carrier assessment.
| Feature | Our Test (MBTPS2 NGS) | Closest Alternative |
|---|---|---|
| Precision | Full gene coverage (single nucleotide, indels, CNVs) | Targeted mutation panels (limited variants) |
| Method | NGS (Illumina® platform) + Sanger validation | Sanger sequencing (single exon) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
“Every variant in the MBTPS2 gene requires careful clinical correlation with the patient’s dermatological and family history, because genotype‑phenotype relationships in X‑linked keratosis follicularis spinulosa decalvans can be subtle. I strongly advise all patients to discuss their result with a clinical geneticist or dermatologist experienced in rare genodermatoses, and to complete a formal genetic counselling session prior to testing.”
— Lina Osama Zaki Quteineh
Consultant Medical Genetics | DHA Registration ID: 9294403
Medication & Clinical Advisory
Important: Do not discontinue or modify any prescribed medication without explicit consultation with your treating physician. This genetic test is intended for diagnostic and carrier risk assessment — it does not replace clinical management decisions. Any change in therapy must be guided by your healthcare provider.
Exclusion Criteria & ER Red Flags
Exclusion Criteria & Urgent Care Indicators
- Exclusion: Inability to provide informed consent; individuals under guardianship without legal representative presence; active systemic infection affecting DNA integrity.
- Red Flag (ER): Severe bleeding, hematoma formation, or signs of infection at venipuncture site post‑home collection.
- Red Flag (Clinical): New‑onset severe photosensitivity, corneal dystrophy, or rapid hair loss progression — immediately contact your dermatologist or visit the nearest emergency department.
Patient FAQ & Clinical Guidance
1. How does NGS technology improve diagnostic accuracy for Keratosis Follicularis Spinulosa Decalvans?
NGS captures the full coding and splice‑site regions of the MBTPS2 gene with >99% analytical sensitivity, detecting point mutations, small deletions, and copy number variants that older methods (e.g., single‑exon Sanger sequencing) miss. This comprehensive approach delivers a definitive molecular diagnosis.
2. What are the key preparation steps before the test?
A mandatory genetic counselling session is required before sample collection. During this session, your clinical geneticist will review your pedigree, explain X‑linked inheritance patterns, discuss possible outcomes, and obtain informed consent. No fasting is needed for the DNA blood sample.
3. Is home blood collection as reliable as clinic venipuncture for DNA testing?
Yes. Our ISO‑certified cold‑chain mobile phlebotomy maintains DNA integrity identically to in‑clinic draws. Blood is collected into EDTA tubes, stored immediately at 2–8°C, and transported via temperature‑controlled courier to the ISO 9001:2015 accredited laboratory.
UAE Regulatory & Data Privacy Adherence
This diagnostic service is fully compliant with the following UAE federal laws and regulations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — ensures secure handling of your genetic and personal information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — governs the electronic processing and storage of health data.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — confirms the legal framework for clinical safety and patient consent.
ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) — quality management system for laboratory operations.
Clinical & Logistical Metadata
| Test Name | MBTPS2 Gene Analysis (Keratosis Follicularis Spinulosa Decalvans, X-Linked) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS, Illumina®) + Sanger Validation |
| ICD-10-CM Code | Q82.8, L66.1, Z15.89 |
| LOINC Code | 81247-1 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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