Test Price
2,800 AED✅ Home Collection Available
ABCD1 Gene Sequencing for Adrenoleukodystrophy & Adrenomyeloneuropathy (NGS)
Executive Summary & Core Metrics
✅ Diagnostic Accuracy: 99.9% variant detection sensitivity via ISO 15189 accredited Next-Generation Sequencing platform.
📦 Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
📞 Post-Test Support: Telephonic clinical consultation with a Consultant Medical Genetics for result interpretation and family planning.
💰 Insurance & Billing: Direct billing verification available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This molecular diagnostic assay utilizes next-generation sequencing (NGS) to perform comprehensive analysis of the ABCD1 gene located on the X-chromosome. Pathogenic variants in ABCD1 are the underlying cause of X-linked adrenoleukodystrophy (X-ALD) and the adult-onset form, adrenomyeloneuropathy (AMN). The test delivers definitive molecular confirmation of the disease, identifies asymptomatic carriers, and provides essential prognostic information for guiding hematopoietic stem cell transplantation (HSCT) and adrenal hormone replacement therapy. A 3–4 week turnaround time is standard to ensure robust bioinformatics analysis and Sanger confirmation of clinically significant findings.
| Feature | ABCD1 NGS (Our Test) | VLCFA Biochemical Screening (Alternative) |
|---|---|---|
| Method | Next-Generation Sequencing (full coding & flanking intronic regions) | Plasma Very-Long-Chain Fatty Acid (C26:0, C26:1) analysis |
| Diagnostic Precision | 99.9% sensitivity; identifies exact pathogenic variant & carrier status | ~99% sensitivity for males; cannot reliably determine carrier status in females |
| Turnaround Time | 21–28 Days (3–4 Weeks) | 5–7 Days |
| Price (AED) | 2,800 | 850 – 1,200 |
*VLCFA is a valuable first-tier screening test. NGS-based ABCD1 sequencing is the recommended confirmatory test for definitive diagnosis, carrier detection, and genetic counseling.
Physician Insight & Safety Protocols
"The ABCD1 gene sequencing test represents a critical diagnostic milestone for families affected by X-linked adrenoleukodystrophy spectrum disorders. Accurate genotyping enables precise genetic counseling, timely surveillance for adrenal insufficiency, and rapid referral for allogeneic hematopoietic stem cell transplantation in patients with cerebral demyelination. At DNA Labs UAE, our NGS pipeline includes robust copy number variant (CNV) detection and rigorous variant classification per ACMG guidelines. I oversee the clinical interpretation of these results to ensure that each patient receives a comprehensive, actionable report."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Medication & Clinical Advisory
Do not discontinue, initiate, or modify any prescribed medication (including adrenal hormone replacement or immunosuppressive therapy) based solely on genetic test results. All clinical management decisions must be made in consultation with your treating specialist. Genetic testing is an adjunctive diagnostic tool and does not replace comprehensive neurological and endocrine evaluation.
Patient Safety – Exclusion Criteria & ER Red Flags
- Inability to provide valid informed consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability (parental/guardian consent is mandatory for minors).
- Active febrile illness, systemic infection, or acute metabolic decompensation on the scheduled collection day (please reschedule).
- History of severe vasovagal syncope or documented needle phobia – please inform our VIP phlebotomy team for specialized patient handling.
- If you experience sudden severe headache, chest pain, shortness of breath, or signs of anaphylaxis within 48 hours post-collection, immediately contact our emergency helpline or proceed to the nearest ER.
Patient FAQ & Clinical Guidance
1. What is the ABCD1 gene test used for?
This test is used to confirm a diagnosis of X-linked adrenoleukodystrophy (X-ALD) or adrenomyeloneuropathy (AMN) in symptomatic individuals. It is also the gold standard method for identifying asymptomatic female carriers who have a 50% risk of passing the pathogenic variant to their children. Results guide crucial clinical decisions regarding adrenal monitoring, neuroimaging surveillance, and stem cell transplantation candidacy.
2. How is the blood sample collected for this genetic test?
The test requires a single peripheral whole blood sample (5–10 mL) collected in an EDTA tube. Our certified phlebotomist performs the draw at your home, office, or hotel room under strict sterile conditions. The sample is immediately logged into a temperature-controlled cold chain and transported to our CAP-accredited sequencing laboratory in Dubai Healthcare City. Mobile home collection is available daily from 8 AM to 11 PM.
3. What is the clinical turnaround time and what do the results indicate?
Results are reported within 21–28 days (3–4 weeks). A report indicating a "Pathogenic Variant" confirms the molecular diagnosis and has significant implications for the patient and their biological relatives. A "Negative" or "Benign" result significantly reduces the likelihood of X-ALD/AMN but does not exclude the possibility of a deep intronic variant or a different genetic condition with overlapping clinical features (such as a peroxisomal biogenesis disorder).
UAE Regulatory & Data Privacy Adherence
Your Data & Safety Are Protected By:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the secure processing of your genetic and health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating the confidentiality of electronic health records and telemedicine consultations.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – ensuring your rights regarding informed consent and clinical safety are fully protected.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – reflecting our commitment to rigorous quality management systems.
- DHA Facility License Number: 1143 – Laboratory location: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | ABCD1 Gene Sequencing (NGS) for X-Linked Adrenoleukodystrophy & Adrenomyeloneuropathy |
| Price (AED) | 2,800 |
| Turnaround Time | 21–28 Days (3–4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina Platform; Full Gene Coverage including CNV detection; Sanger Confirmation of Clinically Significant Variants |
| ICD-10-CM Code | E71.520 (Adrenoleukodystrophy) |
| LOINC Code | 64579-6 (ABCD1 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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