Test Price
2,800 AED✅ Home Collection Available
ELOVL4 Gene Sequencing: Ichthyosis, Spastic Quadriplegia & Intellectual Disability – Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic post-test genetic consultation with a DHA-licensed consultant medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test screens the entire coding region and splice sites of the ELOVL4 gene to detect pathogenic variants associated with syndromic ichthyosis, spastic quadriplegia, and intellectual disability. The assay achieves >99.9% analytical sensitivity and specificity, with bioinformatic confirmation of all clinically relevant variants.
| Feature | ELOVL4 NGS Test | Standard Single-Gene Sanger |
|---|---|---|
| Precision | Full coding region + splice junctions, >99.9% analytical sensitivity | Limited to known hotspots; may miss novel variants |
| Method | Next-Generation Sequencing (NGS) with bioinformatic confirmation | Sanger sequencing of selected exons |
| Turnaround Time | 3–4 weeks | 5–8 weeks (often outsourced) |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Geneticist, I advise that this NGS test must be interpreted alongside the full clinical picture, a three-generation pedigree, and ethical consent. A negative result does not exclude other genetic or environmental causes, while a positive finding requires coordinated multidisciplinary care.” – Lina Osama Zaki Quteineh, DHA Registration ID: 9294403.
Advisory: Pretest Genetic Counselling
- Mandatory counselling is required by DHA regulations before sample collection.
- A detailed pedigree chart must be constructed to assess inheritance patterns and recurrence risks.
- Informed consent documents must be signed by the patient or legal guardian.
Exclusion Criteria & Emergency Red Flags
Do not proceed if:
- Patient or guardian is unable or unwilling to provide informed consent.
- Active skin infection or bleeding diathesis that may compromise sample integrity.
- Recent bone marrow transplant or blood transfusion (< 6 weeks) that could adulterate DNA source.
⚠️ Emergency Red Flags: New-onset seizures, respiratory distress, rapid loss of ambulation, or sudden worsening of skin barrier require immediate medical attention – do not rely on test results for acute management.
Patient FAQ & Clinical Guidance
1. How long does it take to receive the ELOVL4 genetic test results?
Turnaround time is 3 to 4 weeks from sample receipt at our DHA-licensed laboratory. You will receive a secure digital report, followed by a telephonic guidance session with a consultant medical geneticist.
2. Can I use a dried blood spot (FTA card) instead of a whole blood draw?
Yes, the FTA card provides a stable, high-quality DNA source equivalent to peripheral whole blood. Both sample types are accepted and validated for ELOVL4 NGS sequencing. Our VIP mobile phlebotomy service can collect either at your home or office.
3. Is pre-test genetic counselling mandatory in the UAE?
Yes, DHA regulations require a formal genetic counselling session before proceeding with ELOVL4 testing. This ensures accurate pedigree analysis, informed consent, and appropriate interpretation of results within the family context.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic data is processed exclusively within UAE borders, in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Informed Consent & Medical Liability: Pre-test counselling and consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: Laboratory operates under DHA Facility License 1143 and ISO 9001:2015 Certification (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ELOVL4 Gene Sequencing (Ichthyosis, Spastic Quadriplegia & Intellectual Disability) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3-5 mL EDTA) or dried blood spot on FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) – whole coding region + splice sites, with bioinformatic confirmation |
| ICD-10-CM Code | Q80.8 (Other congenital ichthyosis) |
| LOINC Code | 81247-9 (Gene targeted sequencing) |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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