Test Price
2,600 AED✅ Home Collection Available
Next-Generation Sequencing (NGS) for Adrenoleukodystrophy (ALD) – Definitive Molecular Diagnosis in UAE
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity – ISO 9001:2015 Certified dual-platform NGS with confirmatory Sanger sequencing for the ABCD1 gene.
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection – Available daily from 8 AM to 11 PM across the UAE.
Post-Test Clinical Guidance – Complimentary telephonic interpretation by a DHA-licensed Consultant Medical Geneticist.
Insurance Direct Billing – WhatsApp +971 54 548 8731 for instant verification.
Test Overview & Methodology
The NGS Adrenoleukodystrophy Test is a comprehensive genetic assay designed to detect pathogenic variants in the ABCD1 gene, diagnosing X-linked adrenoleukodystrophy (ALD) and related peroxisomal disorders with unparalleled precision. This dual-platform approach integrates next-generation sequencing with confirmatory Sanger sequencing to achieve 99.9% analytical sensitivity.
| Feature | Our NGS + Sanger Test | Conventional Single-Gene Sequencing |
|---|---|---|
| Diagnostic Precision | 99.9% analytical sensitivity with dual-platform confirmation | ~95% for targeted regions; may miss deep intronic or copy number variants |
| Methodology | Next-Generation Sequencing + Confirmatory Sanger Sequencing (LC-MS/MS for biomarkers if indicated) | Sanger sequencing only – limited to known hotspots |
| Turnaround Time | 40 Working Days (ISO 9001:2015 validated) | 30–45 days, often without confirmatory step |
| Regulatory Compliance | DHA/MOHAP licensed; Federal Decree-Law No. 45 of 2021 (PDPL) and Federal Law No. 2 of 2019 | Varies – may not meet local genomic data privacy laws |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognize the profound emotional and medical significance of pursuing a genetic diagnosis for ALD. This NGS test equips families with a definitive molecular answer that can unlock early intervention, guide family planning, and determine eligibility for emerging therapies. I always emphasise that genomic results must be integrated with a thorough neurological examination and biochemical markers to build a complete care plan.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication Continuity
Do not discontinue or adjust any prescribed medication (e.g., corticosteroids for adrenal insufficiency) without consulting your treating physician. This genetic test does not replace ongoing symptom management or emergency care. Always maintain current treatment protocols until advised otherwise by your specialist.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Minors (<18 years) require legal guardian consent as per UAE Federal Law and a duly completed Form 37 (Whole Exome Sequencing Consent).
- Exclusion: Acute neurological deterioration or adrenal crisis – stabilise the patient first; this test is not intended for emergency diagnosis.
- Exclusion: Incomplete consent documentation will delay processing. Ensure all fields are signed and dated.
- Red Flags – Seek Emergency Care Immediately: Sudden vision loss, seizures, loss of consciousness, severe vomiting or dehydration, or signs of adrenal insufficiency (hypotension, hyponatremia).
Pre-Test Logistics: Submit 10 mL (5 mL minimum) whole blood in 2 Lavender Top (EDTA) tubes. Ship refrigerated. Do not freeze. A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. The home collection team will manage cold-chain compliance.
Patient FAQ & Clinical Guidance
1. How accurate is this NGS test for adrenoleukodystrophy?
Answer: The test achieves 99.9% diagnostic sensitivity by combining next-generation sequencing with confirmatory Sanger sequencing for the ABCD1 gene. This dual-platform approach, performed in an ISO 9001:2015 accredited environment, detects single nucleotide variants, small indels, and copy number changes, providing a definitive molecular diagnosis for X-linked ALD.
2. How long does it take to receive results?
Answer: Results are available within 40 working days after sample collection. This timeline allows for comprehensive NGS library preparation, sequencing, bioinformatic analysis, and Sanger validation of any reported variant, adhering to DHA reporting standards and ISO quality controls.
3. Is home blood collection available across the UAE?
Answer: Yes, we provide a VIP mobile phlebotomy service across the UAE from 8 AM to 11 PM daily. Our DHA-licensed phlebotomists follow strict cold-chain protocols, ensuring sample integrity and full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). Appointments can be scheduled via WhatsApp at +971 54 548 8731.
4. What does the post-test genetic counselling involve?
Answer: Every patient receives a complimentary telephonic interpretation session with a Consultant Medical Geneticist. The discussion covers the molecular findings, inheritance pattern, implications for family members, and guidance on available clinical trials or therapeutic options. This service is included in the test price.
5. Can this test detect carriers of ALD?
Answer: Yes, the NGS assay accurately identifies heterozygous female carriers of ABCD1 pathogenic variants. Carrier status is confirmed through the same dual-platform methodology, and results are reported with clear guidance on reproductive risks and options.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: This laboratory operates 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. All genomic data is encrypted, securely stored, and accessible only to authorised clinical personnel. Patient consent is obtained and managed per Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every test is performed with full awareness and legal oversight. The facility is ISO 9001:2015 certified (certificate INT/EGQ/2509DA/3139) and holds DHA Facility License number 1143.
Clinical & Logistical Metadata
| Test Name | NGS Adrenoleukodystrophy (ALD) Test – ABCD1 Full Gene Sequencing with Sanger Confirmation |
| Price (AED) | 2,600 AED |
| Turnaround Time | 40 Working Days |
| Sample Type / Matrix | Whole Blood (10 mL in 2 Lavender Top EDTA Tubes) |
| Methodology Used | Next-Generation Sequencing (NGS) + Confirmatory Sanger Sequencing |
| ICD-10-CM Code | E71.520 |
| LOINC Code | 59432-9 |
| DHA Facility License & Laboratory Address | DHA License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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