Test Price
2,800 AED✅ Home Collection Available
DNMT1 Gene Autosomal Recessive Cerebellar Ataxia with Deafness and Narcolepsy Genetic Test | UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Sequencing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Telephonic Post-Test Clinical Guidance on result interpretation by DHA-licensed Consultant Medical Genetics.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The DNMT1 Genetic Test uses Next-Generation Sequencing to analyse the entire coding region of the DNMT1 gene, identifying pathogenic variants responsible for autosomal recessive cerebellar ataxia with deafness and narcolepsy. This definitive molecular diagnosis enables precise clinical management, family screening, and reproductive planning. The methodology employs Illumina NovaSeq NGS with orthogonal confirmation, providing full gene sequencing covering all exons and splice sites with analytical sensitivity and specificity exceeding 99.9%.
| Feature | Our DNMT1 NGS Test | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Precision | Full gene sequencing (all exons and splice sites) – analytical sensitivity and specificity exceeding 99.9% | Targeted hotspot analysis – may miss novel or deep intronic mutations |
| Method | NGS (Illumina NovaSeq) with orthogonal confirmation | Sanger sequencing of selected exons |
| Turnaround Time | 3–4 Weeks (Rapid option available) | 2–3 Weeks (limited coverage) |
| Clinical Utility | Complete genotype-phenotype correlation, ACMG variant classification, complimentary genetic counselling | Partial information; often requires reflex to broader panel |
Physician Insight & Safety Protocols
The DNMT1 gene encodes a DNA methyltransferase critical for epigenetic regulation in the nervous system. Pathogenic variants in this gene disrupt chromatin remodelling, leading to a triad of progressive cerebellar ataxia, sensorineural deafness, and narcolepsy-cataplexy. For individuals presenting with these clinical features alongside relevant family history, this comprehensive NGS test provides a definitive molecular diagnosis. I strongly recommend concurrent neurological assessment and structured genetic counselling to fully interpret results, assess recurrence risks, and guide family screening strategies.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Do not discontinue any prescribed medication such as stimulants for narcolepsy or anti-ataxic agents without consulting your healthcare provider. Genetic results guide long-term management but do not replace immediate clinical decisions. Always adhere to your treating physician's recommendations while awaiting test results.
Safety Exclusion & Emergency Red Flags
- Exclusion Criteria: Individuals without clinical indication for DNMT1 testing (no ataxia, deafness, or hypersomnia); persons unwilling to provide informed consent. Pregnancy alone is not a contraindication but requires additional genetic counselling.
- Emergency Red Flags – Seek Immediate Medical Attention:
- Rapid progression of gait instability or loss of ambulation
- Episodes of severe cataplexy leading to falls or injury
- Sudden sensorineural hearing loss or acute vertigo
- Status narcolepticus or prolonged sleep attacks endangering daily activities
If you experience any of the above, please visit the nearest emergency department or call 998/999 for ambulance services.
Patient FAQ & Clinical Guidance
1. What is the DNMT1 genetic test and who should consider it?
The DNMT1 NGS test detects mutations in the DNMT1 gene linked to cerebellar ataxia, deafness, and narcolepsy. It is recommended for individuals with suggestive clinical features, progressive neurological decline of unknown cause, or family history of autosomal recessive neurogenetic disorders. Accurate molecular diagnosis informs prognosis, treatment planning, and family cascade testing.
2. How is the sample collected and what preparation is required?
Sample collection involves a standard peripheral venipuncture for whole blood placed in an EDTA tube. No fasting, special diet, or medication adjustments are needed unless instructed by your doctor. Our VIP mobile phlebotomist can perform the blood draw at your home between 8 AM and 11 PM daily, with temperature-controlled cold-chain transport directly to the laboratory.
3. What does a positive or negative result mean for my health and family?
A positive result confirms the genetic cause of your symptoms, enabling targeted surveillance, disease monitoring, and at-risk family member testing. A negative result reduces the likelihood of DNMT1-related disease but may not exclude other genetic causes, potentially prompting further investigations such as whole exome sequencing. Genetic counselling is provided to discuss implications for reproductive planning and inheritance risks.
UAE Regulatory & Data Privacy Adherence
- Patient data handled in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Clinical testing safety and informed consent governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Health data processing adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Laboratory certified ISO 9001:2015 (Certificate No. INT/EGQ/2509DA/3139).
- All genomic testing protocols comply with DHA standards for genetic diagnostics in the UAE.
Clinical & Logistical Metadata
| Test Name | DNMT1 Gene Autosomal Recessive Cerebellar Ataxia with Deafness and Narcolepsy Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (Rapid option available upon request) |
| Sample Type / Matrix | Peripheral whole blood (EDTA), saliva (Oragene), or extracted DNA. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq) with orthogonal Sanger confirmation for reporting |
| ICD-10-CM Code | G11.8, H90.3, Z13.79 |
| LOINC Code | 81226-8 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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