Test Price
1,200 AEDโ Home Collection Available
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC Gene Hotspot Mutation) Test in UAE | 1200 AED
Executive Summary & Core Metrics
Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited molecular processing.
- Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Post-Test Support: Telephonic clinical guidance by a Consultant Medical Genetics included.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.
- Price: AED 1200 (all-inclusive).
Test Overview & Methodology
This targeted genetic assay detects hotspot mutations in the MLC1 gene associated with megalencephalic leukoencephalopathy with subcortical cysts (Van der Knaap disease). The methodology employs PCR amplification followed by bidirectional Sanger sequencing, providing high-resolution confirmation for clinicians managing affected children and adults. Results must be correlated with MRI findings and clinical phenotype for accurate diagnosis and familial genetic counselling.
Our Test vs. Alternative Options
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Precision | MLC1 hotspot mutation analysis (PCR + bidirectional sequencing) | Whole gene sequencing (broader, slower) |
| Method | ISO-certified PCR & Sanger sequencing | NGS panel (may include irrelevant genes) |
| Turnaround Time | 5 working days (Mon sample by 11am, report Fri) | 10โ14 days |
| Price | AED 1200 | AED 1800+ |
Physician Insight & Safety Protocols
โThis targeted MLC1 hotspot assay provides robust molecular confirmation when clinical suspicion and MRI findings align. A negative result does not exclude other leukoencephalopathies; comprehensive genetic counselling and neurologist-led correlation remain indispensable. Always integrate genomic data with imaging and developmental history before finalising management.โ โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication & Treatment Continuity
Do not discontinue, alter, or initiate any prescribed therapy based solely on test results without consulting your treating neurologist or genetic specialist. This test provides diagnostic information and does not replace clinical judgement or therapeutic decision-making.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Haemolysed or clotted samples, incorrect tube type โ recollection required. Testing on asymptomatic minors requires court order and parental consent per UAE Federal Law.
- ER Red Flags: If the patient experiences acute seizures, loss of consciousness, or sudden changes in vision or speech, seek emergency care immediately โ do not delay treatment awaiting test results.
Patient FAQ & Clinical Guidance
1. What does this test detect and who should consider it?
This test identifies hotspot mutations in the MLC1 gene linked to Van der Knaap disease. It is primarily indicated for children with macrocephaly, motor developmental delays, or MRI evidence of subcortical cysts, and for adults with compatible clinical and radiological features. Genetic counselling before and after testing is strongly advised.
2. How is the sample collected and what preparation is needed?
A routine venous blood draw of 4 mL in a lavender-top EDTA tube is collected. The sample must be refrigerated immediately and never frozen. No fasting or special preparation is required. Our mobile phlebotomist can collect at your home between 8 AM and 11 PM daily.
3. When will I receive results and how are they interpreted?
Reports are issued within 5 working days (by Friday if the sample is received by Monday 11 AM). A telephonic consultation with a Consultant Medical Genetics is included to explain the clinical significance of your result and guide next steps.
4. Can this test be performed on other family members?
Yes, cascade testing of at-risk relatives is clinically valuable once a proband mutation is identified. Family testing requires separate requisitions and consent. Our genetic counsellor can coordinate testing for first-degree relatives upon request.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Security
All genetic data is processed 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. Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Our laboratory holds DHA Facility License No. 1143 and is ISO 9001:2015 certified. All specimens are processed within a UAE-sovereign medical laboratory, ensuring your genomic data remains under national jurisdiction.
Clinical & Logistical Metadata
| Test Name | Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC Gene Hotspot Mutation) Test |
| Price (AED) | AED 1200 |
| Turnaround Time | 5 working days |
| Sample Type / Matrix | Peripheral whole blood (4 mL lavender-top EDTA tube) |
| Methodology Used | PCR amplification followed by bidirectional Sanger sequencing |
| ICD-10-CM Code | E75.2 |
| LOINC Code | 92838-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
To schedule your home collection or verify insurance coverage, WhatsApp +971 54 548 8731 (daily 8 AM โ 11 PM). A completed Genomics Clinical Information Requisition Form (Form 20) is mandatory prior to sample collection.
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