Test Price
2,800 AED✅ Home Collection Available
PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PRICKLE1 للصرع الرمعي العضلي المتفاقم من النوع 1A في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Guarantee
99.9% Diagnostic Sensitivity via ISO 15189:2012 Accredited Next Generation Sequencing. Results delivered in 3–4 Weeks. This definitive molecular diagnostic service is engineered for clinical precision.
Premium Logistics: Home Collection
Hospital-Grade, ISO Certified Cold-Chain Home Collection via VIP Mobile Phlebotomy across Dubai, Abu Dhabi, Sharjah, and all Northern Emirates. We accept Whole Blood, Extracted DNA, or Dried Blood Spot on FTA Card.
Clinical Guidance
Complimentary Telephonic Post-Test Clinical Guidance in result interpretation by our expert panel.
Insurance & Billing
Direct Billing Verification via WhatsApp at +971 54 548 8731. Approved by UAE's leading insurers.
الملخص التنفيذي للدقة السريرية: يوفر فحص التسلسل الجيني من الجيل التالي لجين (PRICKLE1) تشخيصًا جزيئيًا دقيقًا وحاسمًا للصرع الرمعي العضلي المتفاقم من النوع 1A. نضمن معدل دقة تشخيصية يبلغ 99.9% عبر منشأة معتمدة بمعيار ISO 15189:2012، مكتملة باستشارة وراثية قبل الفحص، وسحب منزلي لكامل الدم أو بطاقة FTA، ونتائج في غضون 3-4 أسابيع. نلتزم بشكل قاطع بمرسوم القانون الاتحادي رقم 41 لسنة 2024.
Overview & Diagnostic Superiority
This test analyzes the PRICKLE1 gene via Next Generation Sequencing (NGS) to detect pathogenic variants causative of Progressive Myoclonus Epilepsy Type 1A, a rare autosomal recessive neurological disorder. This investigation is the definitive gold standard for differentiating this condition from other myoclonic epilepsies, providing a clear molecular diagnosis for confirmed symptomatic, pre-symptomatic, and carrier status identification.
(يكتشف التحليل المتغيرات الجينية المرضية في جين PRICKLE1 بدقة فائقة) — The definitive molecular diagnosis service for symptomatic, pre-symptomatic, and carrier identification.
| Feature | Our (Precision NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | Full Gene NGS (All Exons & Splice Sites) | Targeted Sanger Sequencing (Specific Exons Only) |
| Detection Rate | >99% (Deep, Uniform Coverage) | ~85-90% (Misses Deep Intronic/Large Del/Dup) |
| Turnaround Time | 3–4 Weeks (Comprehensive Analysis) | 4–6 Weeks (Often batched) |
| Variant Interpretation | ACMG-Certified Clinical Report with DHA-Licensed Sign-Off | Basic Pathogenic/Benign Call, Limited Clinical Context |
Physician Insight & Safety Protocol
"Interpreting the PRICKLE1 genotype requires profound clinical correlation. A positive result confirms a diagnosis and unlocks family planning options, while a negative result in the context of a clear clinical phenotype necessitates a broader genomic workup. I emphasize that patients must never self-discontinue antiepileptic drugs like valproic acid or clonazepam without direct neurologist consultation, as this can precipitate life-threatening status epilepticus."
— Dr. PRABHAKAR REDDY, DHA License: 61713011, Clinical Genetics & Molecular Pathology
Critical Medication Warning
Do not discontinue prescribed medication without consulting your doctor.
Abrupt withdrawal of antimyoclonic or anticonvulsant therapy can cause severe seizure exacerbation and medical emergency.
Pediatric & Adult Exclusion Criteria & ER Red Flags
Exclusion Criteria for Elective Home Collection: Active, uncontrolled generalized tonic-clonic seizures within the last 24 hours; severe, progressive neurological deterioration requiring immediate acute care; any patient on invasive ventilatory support or in status epilepticus. For newborns, critically low birth weight or inability to maintain thermoregulation.
Emergency Room Red Flags Post-Diagnosis: If you or your child experience a seizure lasting longer than 5 minutes (status epilepticus), difficulty breathing, loss of consciousness after a head injury, or sudden and severe myoclonic jerks that prevent safe ambulation, proceed to the nearest hospital emergency department immediately. A molecular genetic result is not a substitute for emergent neurological evaluation.
UAE Minor Consent (CDS Law 2026): Testing for minors requires documented, informed consent from a parent or legal guardian with Emirates ID, in full compliance with UAE Child Data Sovereignty law. The genetic counselling session is mandatory to draw a pedigree chart of affected family members.
Patient FAQ & Clinical Guidance
1. What is the purpose of testing the PRICKLE1 gene for progressive myoclonus epilepsy?
The primary purpose is to definitively confirm a molecular diagnosis of Progressive Myoclonus Epilepsy Type 1A by identifying biallelic pathogenic variants in the PRICKLE1 gene, ending the diagnostic odyssey and guiding precise, personalized neurological management and genetic counseling.
.2- كيف تعمل تقنية تسلسل الجيل التالي (NGS) في هذا الاختبار المحدد؟
تعمل تقنية (NGS) عن طريق قراءة شاملة وعالية الإنتاجية لكل وحدات الإكسون والمواقع الحدودية للوصلة في جين (PRICKLE1)، مما يسمح باكتشاف الطفرات النقطية وحالات الإدراج والحذف الدقيق التي لا تستطيع التقنيات التقليدية اكتشافها.
3. Can I use an FTA card sample instead of a blood draw, and is it equally reliable?
Yes, a single drop of blood on an FTA Card is a fully validated and equally reliable alternative for NGS-based PRICKLE1 gene sequencing, providing highly stable, non-invasive DNA preservation that is ideal for patients with difficult venous access or remote home collection.
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.
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ISMS 27001:2022
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All reports reviewed by DHA-Certified physicians