Test Price
2,800 AED✅ Home Collection Available
PRPS1 Gene CMTX5 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PRPS1 لكشف اعتلال الأعصاب الحسي الحركي CMTX5 في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary | الملخص التنفيذي
يُقدَّم تحليل التسلسل الجيني الكامل لجين PRPS1 وفق أعلى معايير هيئة الصحة بدبي، حيث يكشف بدقة متناهية عن الطفرات المسببة لمرض شاركو-ماري-توث النمط الخامس المرتبط بالكروموسوم X. تلتزم مختبراتنا الحاصزة على شهادة الآيزو 9001:2015 بتقديم نتائج تشخيصية موثوقة بنسبة حساسية تصل إلى 99.9%، مع خدمة سحب منزلي آمن ومريح، وجلسة إرشاد وراثي هاتفية شاملة لتفسير النتائج وربطها بالحالة السريرية للمريض.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation, including genetic counselling correlation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Overview | نظرة عامة
The PRPS1 Gene NGS Test is a comprehensive genetic screen for pathogenic variants causing X-linked Charcot-Marie-Tooth Disease type 5 (CMTX5), a rare inherited peripheral neuropathy characterized by distal muscle wasting, sensory loss, and potential hearing impairment. This Next Generation Sequencing analysis examines the entire coding region of the phosphoribosyl pyrophosphate synthetase 1 gene, providing definitive molecular confirmation for clinicians managing complex neurological disorders.
| Diagnostic Feature | Our Test (Elite Plan) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Full Gene Sequencing) | Single Gene Sanger (Limited) |
| Coverage | Entire Coding Region + Splice Sites | Exon-specific Hotspots Only |
| Turnaround Time | 3 to 4 Weeks (Rigorous Validation) | 6 to 8 Weeks (Standard) |
| Clinical Validation | ClinVar & HGMD Pro Annotated | Basic Reference Alignment |
Physician Insight & Safety Protocol
“As a clinician, I understand the anxiety that accompanies genetic testing for inherited neuropathies. The PRPS1 test provides molecular clarity that is essential for accurate prognosis, familial risk assessment, and ending the diagnostic odyssey many patients face. It is imperative, however, to correlate these DNA findings strictly with electrophysiological studies and physical examination to avoid misinterpretation of incidental variants.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠️ Critical Medication Advisory
Do not discontinue prescribed medication, including neuropathic pain modulators or assistive mobility devices, based solely on genetic results. Clinical management changes must exclusively be directed by your treating neurologist following a comprehensive review.
🛡️ Safety Exclusion Criteria & Emergency Red Flags
Ensure patient safety. Do not proceed with home collection if any of the following apply:
- Exclusion Criteria: Active febrile illness, lack of capacity to consent in a minor (Minors strictly require CDS Law 2026-compliant guardian consent), or anticoagulant therapy at levels incompatible with safe venipuncture.
- Emergency Red Flags (Direct to ER): Sudden onset of respiratory distress, rapidly progressive quadriparesis, or new-onset bulbar symptoms. These constitute a medical emergency separate from this scheduled genetic test.
Patient FAQ & Clinical Guidance
1. How accurate is this PRPS1 gene test for confirming classic CMTX5 neuropathy?
The analytical accuracy exceeds 99.9% for single nucleotide variants and small indels within the captured regions, utilizing NGS with a minimum 30x read depth and complementary Sanger confirmation of all pathogenic findings. يتجاوز معدل الدقة التحليلية 99.9% للطفرات النقطية والحذوف الصغيرة، مع تأكيد جميع النتائج الممرضة بواسطة تقنية سانجر.
2. Can I use my existing DNA sample or an FTA card instead of a fresh blood draw?
Yes, the laboratory accepts whole blood in EDTA, previously extracted high-quality DNA, or one dried blood spot on a validated FTA card, ensuring flexible and non-invasive collection options for pediatric or international patients. نقبل عينة دم كامل، أو حمض نووي مستخلص مسبقاً، أو بقعة دم جافة على بطاقة FTA مما يسهل الفحص للأطفال والمرضى الدوليين دون الحاجة لسحب عينة جديدة.
3. What genetic counselling support is included with the 2800 AED price?
The comprehensive package includes a mandatory pre-test consultation to document a detailed three-generation pedigree chart, and a telephonic post- clinical guidance session to interpret the molecular findings within your family context. تشمل الباقة استشارة وراثية إلزامية قبل الفحص لتوثيق شجرة العائلة، وجلسة إرشاد هاتفية بعد النتيجة لتفسير التقرير الجزيئي وربطه بالتاريخ العائلي بدقة.
Home Collection
VIP Phlebotomy Service
Daily, Including Weekends
2800 AED
All-Inclusive Package
License & Accreditation
Facility: 9834453
ISO 9001:2015
Cert: INT/EGQ/2509DA/3139
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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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.
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ISMS 27001:2022
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