Test Price
2,800 AED✅ Home Collection Available
SCN4A Gene NGS Test for Paramyotonia Congenita (von Eulenburg) in UAE | 2,800 AED | DHA Guidelines
Executive Summary & Core Metrics
Executive Summary
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS processing.
- 🏠 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 in result interpretation by DHA-licensed genetic counsellor.
- 📞 Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SCN4A gene NGS test is a definitive diagnostic tool that sequences the entire SCN4A gene to identify mutations responsible for paramyotonia congenita (von Eulenburg disease). This advanced next-generation sequencing assay detects point mutations, small deletions, duplications, and copy number variants—providing critical insights for neurologists, clinical geneticists, and sports medicine physicians managing exercise- or cold-induced myotonia.
| Feature | Our Test (NGS SCN4A) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – full gene analysis | Single‑region Sanger, limited to known hotspots |
| Detection Rate | >99% for coding variants, including CNVs | ~80% (misses large rearrangements & novel mutations) |
| Turnaround Time | 3–4 weeks | 6–8 weeks (often farmed out internationally) |
| UAE Regulatory Compliance | Full DHA/MOHAP approval; ISO 9001:2015 | Variable; may lack local accreditation |
| Price | 2,800 AED | Often >3,500 AED for full gene sequencing |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Genetics, I recognise how distressing unpredictable muscle stiffness can be for patients and their families. This NGS test illuminates the exact SCN4A alteration, but a definitive diagnosis still requires integration with clinical electromyography and family history. Please discuss all results with your neurologist before making any treatment changes.” — Lina Osama Zaki Quteineh (DHA Registration ID: 9294403)
⚠ Medication Warning
Do not discontinue prescribed medication (e.g., mexiletine, carbamazepine) without consulting your doctor. Abrupt cessation may trigger severe myotonic crises.
Exclusion Criteria & Emergency Red Flags
- Not for emergency use – this test requires 3–4 weeks and cannot rule out acute electrolyte disturbances.
- Pre‑test genetic counselling mandatory per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability; a pedigree chart must be drawn.
- Sample restrictions: Heparinized blood samples are rejected; use EDTA whole blood, extracted DNA, or FTA card only.
- ER Red Flags: Seek immediate emergency care if you develop new‑onset limb paralysis, difficulty breathing, severe myotonia impairing swallowing, or chest pain. These may indicate periodic paralysis overlap or malignant hyperthermia susceptibility – not managed by this genetic test alone.
Patient FAQ & Clinical Guidance
1. What exactly does the SCN4A NGS test detect in paramyotonia congenita?
This NGS test detects single-nucleotide variants, small deletions/insertions, and copy-number changes across all 24 exons of the SCN4A gene, identifying mutations that impair the skeletal muscle sodium channel and cause exercise- or cold-induced myotonia. The assay’s high coverage ensures even low‑level mosaicism is captured, helping distinguish paramyotonia congenita from other non‑dystrophic myotonias. Results guide targeted therapies, lifestyle modifications, and family cascade screening.
2. How should I prepare for the SCN4A gene test, and how is the sample collected?
No fasting or medication stoppage is required; simply provide a blood sample, extracted DNA, or a dried blood spot on an FTA card after a mandatory genetic counselling session to document your pedigree. Our phlebotomist will visit your home between 8 AM and 11 PM. The sample is transported in ISO‑certified cold‑chain containers directly to our CAP‑accredited laboratory. You’ll receive results within 3–4 weeks, with an optional tele‑consult to interpret the report.
3. Is this covered by UAE health insurance, and what laws protect my genetic data?
Many UAE insurers reimburse diagnostic genetic testing when pre‑authorised; our team verifies coverage directly via WhatsApp before booking. Your genomic data is shielded by 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. All genetic information is pseudonymised, stored on encrypted servers within the UAE, and never shared without explicit consent.
UAE Regulatory & Data Privacy Adherence
We strictly adhere to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 on Health ICT. All genetic data is processed under explicit consent, encrypted, and stored within the UAE. Our DHA-licensed facility ensures compliance with ISO 9001:2015 quality management standards.
Clinical & Logistical Metadata
| Parameter | Value |
|---|---|
| Test Name | SCN4A Gene NGS Test for Paramyotonia Congenita |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | EDTA whole blood, extracted DNA, or FTA card (No heparin) |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene analysis |
| ICD-10-CM Code | G71.1 |
| LOINC Code | 81314-2 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, 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