Test Price
2,800 AEDโ Home Collection Available
ZMPSTE24 Gene Sequencing for Lethal Restrictive Dermopathy
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ Available daily 8 AM to 11 PM across the UAE.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ZMPSTE24 gene sequencing test detects pathogenic variants causing lethal restrictive dermopathy, a severe neonatal genodermatosis. This advanced molecular assay utilizes Next-Generation Sequencing (NGS) to provide comprehensive coverage of the entire gene, including intronic and regulatory regions.
| Parameter | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) โ full gene coverage | Sanger sequencing โ limited to known mutations |
| Diagnostic Sensitivity | 99.9% (includes novel variants) | ~85% (only targeted loci) |
| Turnaround Time | 3 to 4 Weeks | 2 to 3 Weeks |
| Clinical Utility | Comprehensive โ diagnosis, carrier screening, prenatal planning | Limited to familial variant confirmation |
Physician Insight & Safety Protocols
โThis comprehensive genetic assay provides definitive molecular evidence for lethal restrictive dermopathy. However, final diagnosis must integrate detailed neonatal skin findings and clinical judgment. Families undergoing carrier screening or prenatal testing should receive comprehensive genetic counseling to interpret outcomes responsibly.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory
Exclusion Criteria & Emergency Red Flags
- Exclusion: Insufficient DNA yield, clotted whole blood, samples collected in incorrect containers, or lack of mandatory clinical history.
- Exclusion: Active systemic infection that may compromise genetic material integrity.
- Emergency Red Flag: If the tested neonate exhibits severe skin tightness, restricted chest movement, or respiratory distress, immediate NICU admission is required independently of this test order.
Medication Safety
โ ๏ธ Do not discontinue prescribed medication without consulting your doctor.
Patient FAQ & Clinical Guidance
1. Why is ZMPSTE24 gene sequencing recommended for suspected restrictive dermopathy?
This test identifies disease-causing mutations in the ZMPSTE24 gene with 99.9% accuracy, enabling definitive diagnosis of lethal restrictive dermopathy even when clinical features overlap with other genodermatoses.
2. How is the sample collected, and can I get home collection?
A simple blood draw, extracted DNA, or a single drop on an FTA card is sufficient. Our VIP mobile phlebotomy service ensures a stress-free collection at your doorstep across the UAE, using temperature-controlled cold-chain packaging.
3. How long do results take and what do they mean?
Results are delivered within 3โ4 weeks. A positive report confirms a pathogenic variant, while negative results should be interpreted alongside clinical findings to rule out the condition.
UAE Regulatory & Data Privacy Adherence
Full Compliance & Accreditations
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree-Law No. 4 of 2016 on Medical Liability
- ISO 9001:2015 Certified (INT/EGQ/2509DA/3139)
- DHA Licensed Facility: 1143
- Clinical Review by Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA 9294403)
Clinical & Logistical Metadata
| Test Name | ZMPSTE24 Gene Sequencing for Lethal Restrictive Dermopathy |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q80.8 |
| LOINC Code | 21665-7 |
| DHA Facility License & Laboratory Address | DHA License: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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