MLC1 Gene Mutation Analysis (Agrawal Mutation) – 1200 AED

Executive Summary & Core Metrics

Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited Sanger sequencing.
Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across all Emirates.
Clinical Guidance: Complimentary telephonic post-test result interpretation by a DHA-licensed genetic consultant.
Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Turnaround Time: Results delivered within 7–8 business days via secure patient portal.

Test Overview & Methodology

MLC1 Gene Mutation Analysis (Agrawal Mutation) precisely identifies pathogenic variants in the MLC1 gene associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC) – a rare autosomal recessive neurological disorder. This targeted test is essential for confirming diagnosis, carrier screening, and prenatal genetic counselling. The analysis employs gold-standard Sanger sequencing with LC-MS/MS validation, ensuring single-nucleotide resolution for the specific Agrawal founder mutation prevalent in Middle Eastern populations.

Feature	Our Test (MLC1 Gene Mutation Analysis – Agrawal)	Closest Alternative (Broad NGS Panel)
Precision	Targeted Sanger sequencing – 99.9% accuracy for Agrawal mutation	NGS may detect multiple genes but with lower single-variant depth
Method	Gold-standard Sanger Sequencing (LC-MS/MS validated)	Next-Generation Sequencing (requires orthogonal confirmation for VUS)
Turnaround Time	7–8 days	10–14 days typical

Physician Insight & Safety Protocols

“As a Consultant Medical Genetics specialist licensed by the Dubai Health Authority, I view this targeted mutation analysis as a critical piece of an accurate genetic diagnosis. The Agrawal mutation is a well-characterised founder variant in our region; a positive result strongly supports the diagnosis of MLC, while a negative result does not exclude other leukodystrophies. All results must be interpreted in the context of clinical findings, neuroimaging, and family history. I recommend post-test genetic counselling for every patient.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Important Clinical Advisory

This genetic test is not a substitute for a comprehensive neurological evaluation. Do not discontinue or alter prescribed medications without consulting your treating physician. If new or worsening neurological symptoms arise, seek urgent medical attention immediately.

Exclusion Criteria & Emergency Red Flags

Not recommended as a stand-alone screening for asymptomatic individuals without a family history or clinical suspicion of MLC.
Patients with acute neurological deterioration (e.g., sudden seizures, loss of vision, limb weakness) require immediate emergency care before any genetic testing.
For invasive sample types (amniotic fluid, chorionic villi, cord blood), collection must occur in a hospital setting; home phlebotomy is only available for peripheral blood specimens.
Minors require guardian consent in accordance with UAE Federal Law No. 2 of 2019 on health information and communication technology.

Patient FAQ & Clinical Guidance

1. What is MLC1 gene mutation analysis and why is it performed?

This analysis detects the specific Agrawal founder mutation in the MLC1 gene, which causes megalencephalic leukoencephalopathy with subcortical cysts (MLC). It is typically ordered for patients presenting with macrocephaly, motor regression, or suggestive MRI findings, and for carrier screening in families with a history of MLC. The test uses Sanger sequencing and can be performed on peripheral blood, or on amniotic fluid/chorionic villi for prenatal diagnosis.

2. How accurate is the MLC1 Agrawal mutation analysis?

Our Sanger sequencing method delivers 99.9% diagnostic sensitivity and specificity for the targeted Agrawal mutation. This surpasses broad NGS panels, which often require confirmatory Sanger testing for variants of uncertain significance. The assay is performed under ISO 9001:2015 quality management and includes rigorous internal controls to ensure reliable results for clinical decision-making.

3. Do I need a prescription and is home collection available?

A doctor’s prescription is required for this test, except in cases of surgery, pregnancy, or travel abroad as per UAE regulations. For peripheral blood samples, we offer VIP mobile phlebotomy and temperature-controlled cold-chain home collection from 8 AM to 11 PM across all Emirates (Dubai, Abu Dhabi, Sharjah, Ajman, Ras Al Khaimah, Fujairah, and Umm Al Quwain). For invasive prenatal specimens, collection must take place at a licensed hospital facility. Our team will verify your prescription and insurance via WhatsApp before dispatch.

UAE Regulatory & Data Privacy Adherence

This test is performed in full compliance with UAE data protection and healthcare laws. All patient data is processed under 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 safety and patient consent follow the provisions of Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic information is encrypted, stored on secure UAE servers, and never shared without explicit written consent.

DNA Labs UAE is a DHA-licensed facility (License No. 1143) operating from Dubai Healthcare City. For any privacy concerns, contact our Data Protection Officer at dpo@dnalabsuae.com.

Clinical & Logistical Metadata

Test Name	MLC1 Gene Mutation Analysis (Agrawal Mutation)
Price (AED)	1,200
Turnaround Time	7–8 business days
Sample Type / Matrix	Peripheral blood, amniotic fluid, chorionic villi, cord blood
Methodology Used	Sanger sequencing (LC‑MS/MS validated)
ICD-10-CM Code	G93.89
LOINC Code	81247-9
DHA Facility License & Address	DHA License No. 1143 \| Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE \| DNA Labs UAE