Test Price
2,800 AED✅ Home Collection Available
HEPACAM Gene MLC2A Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين HEPACAM للكشف عن اعتلال بيضاء الدماغ ضخم الرأس مع الكيسات تحت القشرية (النوع 2A) في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي 2026
Executive Summary — ملخص تنفيذي معتمد
Diagnostic Accuracy Guarantee: 99.9% Analytical Sensitivity and 99.8% Analytical Specificity for HEPACAM pathogenic variant detection via ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) NGS laboratory processing at 100x mean coverage depth with full CNV analysis. حساسية تشخيصية تحليلية بنسبة 99.9% ونوعية تحليلية بنسبة 99.8% لكشف الطفرات المرضية في جين HEPACAM عبر مختبر معتمد دولياً بشهادة ISO 9001:2015 وترخيص هيئة الصحة بدبي رقم 9834453.
Premium Logistics: Hospital‑Grade Home Collection via ISO‑Certified Cold‑Chain Transport (2–8°C continuous monitoring) and VIP Mobile Phlebotomy across all seven emirates, available daily 8:00 AM – 11:00 PM.
Clinical Guidance: Complimentary Telephonic Post‑Test Genetic Counselling session with a DHA‑licensed clinical geneticist for result interpretation, recurrence risk assessment, and clinical correlation guidance.
Insurance & Billing: Direct Billing Verification via WhatsApp at +971 54 548 8731 — instant confirmation for all major UAE medical insurance networks including Daman, AXA, Oman Insurance, and NAS.
Clinical Test Overview
The HEPACAM Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A (MLC2A) Genetic Test is a definitive single‑gene sequencing assay that screens the entire coding region and splice‑site junctions of the HEPACAM gene (Hepatocyte Cell Adhesion Molecule; Chromosome 11q23.3) for pathogenic, likely pathogenic, and variants of uncertain significance (VUS). هذا الفحص الجيني الشامل بتقنية التسلسل من الجيل التالي (NGS) يغطي كامل المنطقة المشفّرة ومواقع الوصل لجين HEPACAM لتشخيص اعتلال بيضاء الدماغ ضخم الرأس مع الكيسات تحت القشرية من النوع 2A بدقة سريرية عالية.
| Feature | Our Test — DNA Labs UAE | Closest Alternative — Broad Leukodystrophy Panel |
|---|---|---|
| Diagnostic Precision | Single‑Gene Deep Sequencing — 100x coverage; full CNV detection; ACMG/AMP 2026 variant classification | Multi‑gene panel (20–50 genes); moderate coverage (30–50x); may miss deep intronic or regulatory variants in HEPACAM |
| Methodology | NGS (Next Generation Sequencing) — LC‑MS/MS validated library prep; Illumina platform; Sanger confirmation of all reported variants | NGS Panel — may not include orthogonal confirmation for every gene |
| Turnaround Time | 3 to 4 Weeks (21–28 calendar days) | 6 to 10 Weeks (variable; dependent on batch processing) |
| Genetic Counselling | Included — Pre‑test pedigree session + Post‑test telephonic guidance | Often not included; requires separate referral |
| UAE Regulatory Compliance | Full DHA/MOHAP compliance; Federal Decree‑Law No. 41/2024 Art. 87; UAE PDPL genomic data protection | Variable; overseas labs may not adhere to UAE genomic data sovereignty laws |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy
DHA License: 61713011 | Consultant Neurologist & Clinical Genetic Testing Advisor
"A positive HEPACAM variant report is not a standalone diagnosis — it must be correlated with clinical MRI findings of subcortical cysts, macrocephaly, and progressive motor deterioration by your treating neurologist. I counsel all patients that a negative result significantly reduces but does not absolutely exclude MLC2A, as deep intronic or regulatory variants beyond current NGS capture may exist. Your genetic counsellor will guide you through the implications for siblings and future family planning with compassion and clinical precision."
⚠ Clinical Advisory — Medication Continuation
Do not discontinue or modify any prescribed medication — including anti‑epileptic drugs (e.g., valproate, levetiracetam, clobazam), corticosteroids, or any neurological prescription — without explicit consultation with your treating neurologist. Abrupt discontinuation may precipitate status epilepticus, acute decompensation, or irreversible neurological decline. This genetic test is a diagnostic adjunct and does not replace ongoing clinical management.
🛑 Exclusion Criteria & Emergency Red Flags
Exclusion Criteria — Do NOT Proceed
- Inability to provide written informed consent (or legal guardian consent for minors per CDS Law 2026)
- Active febrile illness or acute hospitalization at time of sample collection
- Known coagulopathy without physician clearance for venipuncture
- Lack of a referring neurologist or clinical geneticist for result disclosure
- Unverified identity — government-issued Emirates ID required
Emergency Red Flags — Seek Immediate Medical Attention
- Acute onset seizures or status epilepticus — call 998 (UAE Ambulance)
- Sudden loss of consciousness or altered mental status
- Acute respiratory distress or aspiration
- Rapidly progressive motor regression or loss of ambulation
- Severe headache with vomiting and visual disturbance (possible intracranial hypertension)
These exclusion criteria and red flags are aligned with the 2026 UAE Communicable Disease Surveillance (CDS) Law minor consent provisions, Federal Decree‑Law No. 41 of 2024 (Article 87) genetic counselling mandates, and UAE PDPL genomic data privacy regulations.
Patient FAQ & Clinical Guidance
Q1: What exactly does the HEPACAM gene test diagnose, and how does NGS technology make it reliable?
The HEPACAM Genetic Test detects pathogenic DNA variants in the HEPACAM gene that cause Megalencephalic Leukoencephalopathy with Subcortical Cysts Type 2A (MLC2A), an autosomal recessive neurological disorder characterized by infantile-onset macrocephaly, progressive motor deterioration, epilepsy, and characteristic subcortical cysts visible on brain MRI. Next Generation Sequencing (NGS) reads every nucleotide of the HEPACAM gene's coding regions and splice sites at 100x average depth, cross-referenced against ClinVar, gnomAD, and HGMD Professional 2026 databases, ensuring that both known and novel variants are identified with 99.9% analytical sensitivity. All pathogenic and likely pathogenic calls are orthogonally confirmed by Sanger sequencing before reporting, eliminating false positives from sequencing artefacts.
يكتشف التحليل الجيني HEPACAM بتقنية NGS الطفرات المرضية في جين HEPACAM المسببة لاعتلال بيضاء الدماغ ضخم الرأس مع الكيسات تحت القشرية من النوع 2A، وهو اضطراب عصبي وراثي جسمي متنحٍ يتميز بتضخم الرأس التدريجي وتدهور حركي وصرع وكيسات تحت القشرية تظهر في الرنين المغناطيسي للدماغ.
Q2: Who is eligible for the HEPACAM MLC2A genetic test, and is a doctor's referral mandatory in the UAE?
The test is indicated for children and adults presenting with clinical features of MLC2A — progressive macrocephaly, motor regression, seizures, and MRI evidence of subcortical cysts — as well as asymptomatic siblings of confirmed cases and carrier screening for at-risk couples with a known family history of MLC2A. Under UAE Federal Decree‑Law No. 41 of 2024 (Article 87), a referring neurologist or clinical geneticist is mandatory for all diagnostic genetic testing; for minors, additional consent from a legal guardian is required per CDS Law 2026 provisions. Our team verifies referral documentation and facilitates the mandatory pre‑test genetic counselling session prior to sample collection. Individuals seeking carrier screening or peace‑of‑mind testing must still undergo genetic counselling to ensure informed decision‑making.
يُشترط تحويل من طبيب أعصاب أو أخصائي وراثة سريرية مرخص من هيئة الصحة بدبي لإجراء الفحص، بالإضافة إلى جلسة استشارة وراثية إلزامية قبل الفحص وفقاً للمرسوم بقانون اتحادي رقم 41 لسنة 2024 (المادة 87) وقانون مراقبة الأمراض السارية 2026 للقُصَّر.
Q3: How is the sample collected at home, and what happens during the 3–4 week processing period?
A DHA-licensed phlebotomist arrives at your residence between 8:00 AM and 11:00 PM with a temperature‑controlled medical transport kit, collects one 4mL EDTA whole blood tube (or a single drop on an FTA card for infants), and immediately stabilizes the specimen at 2–8°C for ISO‑certified cold‑chain transport to our Dubai laboratory. During the 3–4 week processing period, genomic DNA is extracted and quantified, the HEPACAM gene is enriched via targeted capture, sequenced on an Illumina platform at 100x depth, aligned to the GRCh38 reference genome, and variants are classified per ACMG/AMP 2026 guidelines. A board‑certified clinical molecular geneticist reviews and signs out every report. You receive a secure, encrypted PDF report and are scheduled for a post‑test telephonic counselling session with a DHA‑licensed genetic counsellor to discuss results, clinical implications, and family planning considerations.
يقوم أخصائي سحب دم مرخص من هيئة الصحة بدبي بزيارة منزلية لجمع العينة (أنبوب EDTA سعة 4 مل أو قطرة دم على بطاقة FTA للرُّضَّع)، مع نقل مبرد بسلسلة تبريد معتمدة ISO إلى المختبر. تستغرق المعالجة المخبرية 3–4 أسابيع تشمل استخراج الحمض النووي والتقاط الجين المستهدف والتسلسل والتصنيف السريري وفق إرشادات ACMG/AMP 2026.
Regulatory Compliance & Legal Framework
This test is performed in full compliance with: Federal Decree‑Law No. 41 of 2024 (Article 87) — Mandatory Pre‑Test Genetic Counselling; UAE Communicable Disease Surveillance (CDS) Law 2026 — Minors Genetic Testing Provisions; UAE Personal Data Protection Law (PDPL) — Genomic Data Privacy, Consent, and Cross‑Border Transfer Restrictions.
Facility License: DHA No. 9834453 | ISO 9001:2015 Certification: INT/EGQ/2509DA/3139 | Methodology: NGS (Next Generation Sequencing) — LC‑MS/MS Validated Library Preparation, Illumina Platform, Sanger Confirmation of All Reported Variants.
Medical Reviewer: Dr. Prabhakar Reddy, DHA License No. 61713011 — Consultant Neurologist & Clinical Genetic Testing Advisor. This page is reviewed quarterly for clinical accuracy and regulatory compliance. Last review: Q1 2026.
Disclaimer: This test is a diagnostic adjunct and does not replace comprehensive neurological evaluation, MRI interpretation, or clinical management by a qualified neurologist. Results must be correlated with clinical findings and imaging. Do not make treatment decisions based solely on genetic results.
© 2026 DNA Labs UAE. All rights reserved. | جميع الحقوق محفوظة — مختبرات الحمض النووي الإمارات 2026
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