Test Price
2,800 AED✅ Home Collection Available
NHLRC1 Gene Myoclonic Epilepsy of Lafora Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary: High‑precision genetic screening for NHLRC1 mutations associated with Lafora neurodegenerative disease, DHA‑licensed, includes pre‑ and post‑test genetic counseling per UAE federal regulations.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139) and AI‑augmented NGS analysis.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary Telephonic Post‑Test Clinical Guidance with a DHA‑licensed Medical Geneticist and Genetic Counsellor for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (UAE PDPL compliant; Federal Law No. 2 of 2019 on health data).
Test Overview & Methodology
This single‑gene Next‑Generation Sequencing (NGS) test identifies pathogenic and likely‑pathogenic variants in the NHLRC1 gene (malin) with 99.9% clinical sensitivity, enabling early diagnosis of Lafora progressive myoclonus epilepsy—a childhood‑onset neurodegenerative disorder—and guiding targeted clinical management and family planning within the UAE’s regulated genetic testing framework.
| Feature | Our Test – preciseGP™ | Closest Alternative (Standard Sanger) |
|---|---|---|
| Variant Detection Precision | Single‑nucleotide resolution, full‑gene coverage including deep intronic ±10 bp via AI‑enhanced NGS | Targeted exon analysis only; may miss non‑coding and structural variants |
| Turnaround Time | 3–4 Weeks with interim verbal report at 14 business days | 5–8 Weeks |
| Regulatory Accreditation | ISO 9001:2015, DHA‑licensed facility (License: 1143), UAE PDPL‑compliant data storage, Federal Law No. 2 of 2019 on health data | Often lacks local UAE genetic privacy certification |
Physician Insight & Safety Protocols
“Interpreting a genetic result for Lafora disease requires not only technical accuracy but also a deep understanding of the family’s emotional and clinical journey. I ensure that every variant is correlated with the patient’s phenotype and that families receive comprehensive counseling about recurrence risks, prognosis, and available support within the UAE.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Medication Advisory
⚠️ Do not discontinue prescribed anti‑epileptic or neuroprotective medication without consulting your treating physician. Abrupt changes may precipitate status epilepticus. Always follow your neurologist’s guidance.
Exclusion Criteria & ER Red Flags
- Exclusion: Active febrile illness within 48 hours; recent blood transfusion < 7 days; sample hemolysis or insufficient DNA quantity.
- Post‑test ER Red Flags: New‑onset myoclonic jerks with loss of consciousness, progressive cognitive decline, or seizure lasting >5 minutes — immediately proceed to ER and inform the ordering neurologist.
- Genetic counselling is mandatory pre‑test (per Federal Decree‑Law No. 4 of 2016 on Medical Liability for minors); a pedigree chart of affected family members is required to meet DHA documentation standards.
Patient FAQ & Clinical Guidance
1. What mutations does the NHLRC1 NGS test detect?
This NGS test detects the full spectrum of point mutations, small insertions/deletions, and splice‑site alterations in the NHLRC1 (malin) gene responsible for Lafora disease. The analysis covers all coding exons and conserved regulatory regions, providing a molecular diagnosis when clinical features (myoclonus, cognitive decline, EEG abnormalities) suggest progressive myoclonic epilepsy.
2. Does insurance cover the cost of this genetic test in the UAE?
Under UAE Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, and the PDPL (Federal Decree‑Law No. 45 of 2021), genetic testing for medically indicated neurogenetic disorders is reimbursable when accompanied by a referral from a DHA‑licensed neurologist or clinical geneticist. Our team facilitates pre‑authorization within 24 hours. Direct billing verification is available via WhatsApp +971 54 548 8731.
3. When should this test be performed for children or adults?
The test is recommended for children aged 6–18 with unexplained myoclonus and seizures, or for asymptomatic siblings of confirmed cases. For adults, it is indicated when late‑onset Lafora disease is suspected. UAE regulations require written parental consent and a DHA‑approved genetic counselling session before sample collection for minors, in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
4. What sample is required for the NHLRC1 gene test?
A peripheral whole blood sample (3–5 mL in EDTA tube) is required. The sample can be collected via our VIP Mobile Phlebotomy service at your home or at any DNA Labs UAE collection center. For archival tissue or other specimen types, please consult our genetic counsellor to determine feasibility.
UAE Regulatory & Data Privacy Adherence
Your genetic data is processed and stored 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. Patient consent for genetic testing, including for minors, follows Federal Decree‑Law No. 4 of 2016 on Medical Liability. All results are accessible only to the ordering physician and the patient, and are never shared without explicit written authorization.
Clinical & Logistical Metadata
| Test Name | NHLRC1 Gene Myoclonic Epilepsy of Lafora Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full Gene Coverage |
| ICD-10-CM Code | G40.3 (Progressive myoclonic epilepsy) |
| LOINC Code | 91757-9 (NHLRC1 gene mutation analysis in blood) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians