Test Price
2,800 AED✅ Home Collection Available
HEPACAM Gene MLC2A Genetic Test in UAE | 2,800 AED | DHA-Licensed Diagnostic Laboratory
Executive Summary & Core Metrics
Executive Summary
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.
Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all seven emirates, with continuous 2–8°C monitoring and ISO-certified transport to our Dubai laboratory facility.
Clinical Guidance: Complimentary pre-test pedigree risk assessment and telephonic post-test genetic counselling session with a DHA-licensed Consultant Medical Genetics for result interpretation, recurrence risk assessment, and clinical correlation guidance.
Insurance and 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.
Test Overview & Methodology
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). This comprehensive next-generation sequencing assay covers the full coding region and splice junctions of the HEPACAM gene to diagnose Megalencephalic Leukoencephalopathy with Subcortical Cysts Type 2A with high clinical accuracy.
| Feature | Our Test — DNA Labs UAE | Closest Alternative — Broad Leukodystrophy Panel |
|---|---|---|
| Diagnostic Precision | Single-Gene Deep Sequencing — 100x coverage; full CNV detection; ACMG/AMP 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) — validated library preparation; 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 and post-test telephonic guidance | Often not included; requires separate referral |
| UAE Regulatory Compliance | Full DHA and MOHAP compliance; Federal Decree-Law No. 45 of 2021 (PDPL) genomic data protection | Variable; overseas labs may not adhere to UAE genomic data sovereignty laws |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh
DHA Registration ID: 9294403 | Consultant Medical Genetics
"A positive HEPACAM variant report must be correlated with clinical MRI findings of subcortical cysts, macrocephaly, and progressive motor deterioration by your treating neurologist. A negative result significantly reduces but does not absolutely exclude MLC2A, as deep intronic or regulatory variants beyond current NGS capture may remain undetected. The post-test genetic counselling session will address implications for siblings and future family planning with thorough clinical precision."
Clinical Advisory — Medication Continuation
Do not discontinue or modify any prescribed medication — including anti-epileptic drugs such as valproate, levetiracetam, or 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 serves as a diagnostic adjunct and does not replace ongoing clinical management.
🛑 Exclusion Criteria and Emergency Red Flags
Exclusion Criteria — Do Not Proceed
- Inability to provide written informed consent or legal guardian consent for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability
- 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 Federal Decree-Law No. 4 of 2016 on Medical Liability provisions for genetic testing consent and safety, Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for genomic data privacy, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for electronic health data security.
Patient FAQ & Clinical Guidance
1. 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 coding regions and splice sites at 100x average depth, cross-referenced against ClinVar, gnomAD, and HGMD Professional 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.
2. Who is eligible for the HEPACAM MLC2A genetic test, and is a doctor referral mandatory in the UAE?
The test is indicated for children and adults presenting with clinical features of MLC2A including 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 regulatory frameworks, a referring neurologist or clinical geneticist is mandatory for all diagnostic genetic testing; for minors, additional consent from a legal guardian is required per Federal Decree-Law No. 4 of 2016 on Medical Liability 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.
3. How is the sample collected at home, and what happens during the 3 to 4 week processing period?
A DHA-licensed phlebotomist arrives at your residence between 8 AM and 11 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 to 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 guidelines. A board-certified Consultant Medical Genetics 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.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance and Legal Framework
This genetic test is performed in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing genomic data privacy, consent, and cross-border transfer restrictions, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for electronic health information security. Clinical safety and patient consent protocols are aligned with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Facility License: DHA No. 1143 | ISO 9001:2015 Certification: INT/EGQ/2509DA/3139 | Methodology: NGS (Next Generation Sequencing) — Validated Library Preparation, Illumina Platform, Sanger Confirmation of All Reported Variants.
Medical Reviewer: Lina Osama Zaki Quteineh, DHA Registration ID: 9294403 — Consultant Medical Genetics. This page is reviewed quarterly for clinical accuracy and regulatory compliance.
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.
Clinical & Logistical Metadata
| Test Name | HEPACAM Gene Megalencephalic Leukoencephalopathy with Subcortical Cysts 2A (MLC2A) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (21–28 calendar days) |
| Sample Type / Matrix | Whole Blood (4mL EDTA tube) or FTA Card (infants) — VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | NGS (Next Generation Sequencing) — Targeted Capture, Illumina Platform, 100x Mean Coverage, Sanger Confirmation of All Reported Variants |
| ICD-10-CM Code | G93.8 |
| LOINC Code | 94834-7 |
| DHA Facility License and Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
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