Test Price
2,800 AEDโ Home Collection Available
MFSD8 Gene (Ceroid Lipofuscinosis, Neuronal Type 7) Genetic Test in Dubai, UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited Next-Generation Sequencing (NGS) processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: ISO-certified cold-chain VIP mobile phlebotomy and home collection service available daily from 8 AM to 11 PM.
Clinical Guidance: Multilingual telephonic post-test genetic counselling and result interpretation by a certified clinical team.
Insurance: Direct billing verification and pre-authorization support via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced genetic test sequences the entire coding region and conserved splice sites of the MFSD8 gene to detect pathogenic variants causing Neuronal Ceroid Lipofuscinosis Type 7 (CLN7), a rare neurodegenerative lysosomal storage disorder. Performed in our DHA-licensed facility (License No. 1143) using high-fidelity NGS on the Illumina NovaSeq platform, this test delivers confident differentiation of CLN7 from other NCL subtypes and provides definitive molecular evidence for clinical management.
| Feature | DNA Labs UAE Test | Closest Alternative |
|---|---|---|
| Precision | Full gene NGS โ >99.9% analytical sensitivity for single nucleotide variants and small indels | Targeted mutation panel โ limited variant detection |
| Method | NGS (Illumina NovaSeq) with confirmatory Sanger sequencing | Sanger sequencing of selected exons only |
| Turnaround Time | 3 to 4 weeks | 4 to 6 weeks |
Physician Insight & Safety Protocols
โConfirming a molecular diagnosis of CLN7 through comprehensive MFSD8 sequencing provides a definitive endpoint for families navigating a complex neurodegenerative journey. It enables precise genetic counselling and accurate recurrence risk assessment for future family planning. However, results must always be interpreted within the full clinical, neuroimaging, and enzymatic context by a qualified medical geneticist.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Medication Advisory
Do not discontinue, initiate, or modify any prescribed antiepileptic, neuroprotective, or symptomatic therapy without consulting your treating specialist. This genetic test provides diagnostic information and does not constitute immediate medical management guidance.
Patient Safety & Exclusion Criteria
- Absolute contraindications: Recent allogeneic stem cell transplantation (confounds germline analysis); insufficient or degraded sample DNA.
- Red flags requiring immediate emergency care (not related to test): Acute worsening of seizure frequency, sudden loss of vision, rapid behavioural regression, or dysphagia. Proceed to the nearest emergency room immediately.
- Test-specific preparation: No fasting is required. For buccal swab or saliva collection, avoid food or drink for 30 minutes prior. Do not brush your teeth for at least 1 hour before sample collection.
Patient FAQ & Clinical Guidance
1. What is the MFSD8 gene test used for?
This test is specifically designed to detect biallelic pathogenic variants in the MFSD8 gene, which confirm a diagnosis of Neuronal Ceroid Lipofuscinosis Type 7 (CLN7). CLN7 is a variant late-infantile NCL characterized by progressive neurodegeneration, vision loss, and epilepsy. This test does not screen for other forms of NCL; a complementary multi-gene NGS panel may be recommended if CLN7 is not confirmed.
2. How long does it take to get results?
Our NGS-based MFSD8 gene test is completed within 3 to 4 weeks from the date of sample receipt at our Dubai laboratory. This timeline includes confirmatory Sanger sequencing for any detected variant. Turnaround time may extend slightly if repeat testing is required, but our ISO-certified workflow consistently meets this window.
3. What type of sample is required?
A standard peripheral whole blood sample (3-5 mL in an EDTA tube) or a high-quality saliva sample (2 mL) is required. We provide an ISO-certified cold-chain home collection service via VIP mobile phlebotomy, with a trained nurse available between 8 AM and 11 PM. Extracted DNA (if meeting quality metrics) can also be accepted with proper chain-of-custody documentation.
4. Will insurance cover the cost of this genetic test?
Coverage varies by insurer and policy. DNA Labs UAE offers complimentary insurance pre-authorization checks via WhatsApp at +971 54 548 8731. Our team can verify your policy's genetic testing benefits and direct billing eligibility before you commit to the service. Cash and credit card payments are also accepted.
UAE Regulatory & Data Privacy Adherence
Legal & Ethical Compliance Framework
- Data Protection: All genetic data is processed and stored in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and the UAE Health Data Protection Standards.
- Health Information Management: Our laboratory information system (LIS) adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure storage and transmission of health data.
- Patient Safety & Liability: Clinical testing and patient consent protocols strictly follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Pre-Test Requirement: A telephonic or in-person pre-test genetic counselling session with a licensed genetic counsellor is mandatory to obtain informed consent and document family pedigree.
Clinical & Logistical Metadata
| Test Name | MFSD8 Gene Sequencing (Ceroid Lipofuscinosis, Neuronal Type 7) |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Saliva |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | E75.49 |
| LOINC Code | 47896-1 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians