Test Price
2,800 AED✅ Home Collection Available
PMP22 Gene CMT1A Genetic Test in the UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PMP22 CMT1A باستخدام تسلسل الجيل التالي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
الملخص التنفيذي: ضمان دقة تشخيصية بنسبة 99.9% عبر مختبر حاصل على شهادة ISO
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM, all Emirates).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Comprehensive NGS Analysis for Charcot-Marie-Tooth Disease Type 1A
يحدد هذا الاختبار الطفرات من نوع التضاعف أو الحذف في جين PMP22 المسبب الرئيسي لمرض شاركو-ماري-توث (النوع 1أ)، وذلك باستخدام تقنية تسلسل الجيل التالي (NGS). This advanced genetic test provides definitive molecular diagnosis, enabling accurate genetic counselling and informed family planning for individuals and families affected by CMT1A.
| Feature | Our Test (NGS Panel) | Closest Alternative (MLPA only) |
|---|---|---|
| Precision | 99.9% sensitivity & specificity for PMP22 copy number variants | ~98% sensitivity; may miss breakpoints or structural variants |
| Methodology | Next‑Generation Sequencing (NGS) with full gene coverage + bioinformatic CNV calling | Multiplex Ligation‑dependent Probe Amplification (MLPA) – targeted probe set |
| Turnaround Time | 3 to 4 Weeks | 2 to 3 Weeks (often requires reflex to NGS for uncertain results) |
Physician Insight & Safety Protocol
“As a DHA-consultant neurologist, I advise that while this NGS test robustly detects PMP22 duplications/deletions underlying CMT1A, the result must always be interpreted in the context of a detailed clinical history and neuromuscular examination. It confirms the diagnosis but does not replace expert clinical correlation.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠️ Medication Warning: Do not discontinue any prescribed medication without consulting your treating physician. This genetic test does not initiate or alter therapy by itself.
Patient Safety – Exclusion Criteria & Emergency Red Flags
- Exclusion: Asymptomatic individuals without a suggestive family history should not proceed without prior genetic counselling and informed consent.
- Exclusion: Patients who are unable to provide a valid blood/DNA sample (e.g., severe coagulopathy not controlled) – alternative sampling (FTA card) can be discussed.
- Red Flag: Sudden onset of severe limb weakness, speech difficulties, or loss of vision – seek emergency medical attention immediately as these may indicate an acute neurological event and are not typical of CMT.
- Red Flag: Rapidly progressive neuropathy over days to weeks warrants urgent in‑person neurological evaluation, not just genetic testing.
Frequently Asked Questions – Clinical Guidance
1. What exactly does the PMP22 gene CMT1A NGS test detect?
Snippet: This test detects duplications or deletions of the PMP22 gene, which are the primary molecular cause of Charcot-Marie-Tooth disease type 1A, a hereditary peripheral neuropathy.
يكشف هذا الاختبار عن التضاعف أو الحذف في جين PMP22، وهو السبب الجزيئي الرئيسي لمرض شاركو-ماري-توث من النوع 1أ، وهو اعتلال عصبي وراثي يصيب الأعصاب الطرفية.
2. How accurate is this genetic test compared to older methods?
Snippet: Our NGS-based assay achieves over 99.9% sensitivity and specificity for PMP22 copy number variants, validated under ISO 9001:2015 quality management standards and current guidelines.
يحقق اختبارنا القائم على تسلسل الجيل التالي حساسية ونوعية تتجاوز 99.9% لتحديد التغيرات في عدد نسخ جين PMP22، وقد تم التحقق منه وفق معايير الآيزو 9001:2015 والإرشادات الحالية.
3. Do I need a doctor’s referral for this test in the UAE?
Snippet: Yes, a referral from a DHA-licensed neurologist or clinical geneticist is mandatory; we provide complimentary telephonic pre- and post- genetic counselling to comply with UAE healthcare regulations.
نعم، يلزم وجود إحالة من طبيب أعصاب أو اختصاصي وراثة سريري مرخص من هيئة الصحة بدبي؛ ونحن نقدم استشارات وراثية هاتفية مجانية قبل وبعد الفحص امتثالاً للوائح الصحية في دولة الإمارات.
Compliant with Federal Decree-Law No. 41 of 2024 (Art. 87) on Medical Liability, UAE Child Protection CDS Law 2026 (guardian consent for minors), and UAE Personal Data Protection Law (PDPL).
ISO 9001:2015 Certified Facility – Cert. No. INT/EGQ/2509DA/3139. DHA Facility License: 9834453.
Clinical oversight by Dr. PRABHAKAR REDDY (DHA 61713011). This page is for informational purposes and does not replace direct medical advice.
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