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Test Price

2,800 AED

✅ Home Collection Available

PRICKLE2 Gene Progressive Myoclonic Epilepsy Type 5 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines

تحليل جين PRICKLE2 للصرع الرمعي العضلي المترقي من النوع الخامس في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي

Executive Summary

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited sequencing (Cert: INT/EGQ/2509DA/3139) using state-of-the-art NGS technology.
  • Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy, served across all Emirates.
  • Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-licensed genetic counsellors.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

ملخص تنفيذي: دقة تشخيصية بنسبة 99.9% من خلال مختبرنا المعتمد عالميًا ISO 9001، مع خدمة سحب الدم المنزلي بنظام التبريد الطبي المضمون واستشارة طبية هاتفية بعد النتيجة لضمان فهمك الكامل. تأكيد تغطية التأمين عبر واتساب.

Overview

The PRICKLE2 gene test identifies pathogenic variants in the PRICKLE2 gene associated with progressive myoclonic epilepsy type 5, an autosomal recessive neurological disorder characterized by myoclonus, generalized seizures, and progressive neurodegeneration. This advanced NGS (Next Generation Sequencing) assay provides definitive molecular confirmation, guiding personalized treatment and family planning.

Feature Our Test (DNA Labs UAE) Closest Alternative (Overseas Lab)
Precision 99.9% analytical sensitivity, CNV and SNV detection via NGS May miss intronic/copy-number variants; lower coverage
Methodology Full Gene Sequencing (NGS) with MLPA confirmation Single-gene Sanger, limited to known hotspots
Turnaround Time 3–4 Weeks (DHA-MOHAP licensed facility) 6–8 Weeks (shipping delays)

Physician Insight & Safety Protocol

"As a neurologist, I understand the anxiety a family faces when progressive myoclonus appears. This genetic test pinpoints the exact PRICKLE2 mutation, enabling us to tailor anti-epileptic therapy and offer clear genetic counselling. However, a positive result must be correlated with your clinical picture — never as a standalone diagnosis."

— Dr. Prabhakar Reddy, DHA License 61713011

Do not discontinue any prescribed medication without consulting your treating physician. A test result does not replace medical management.

Exclusion Criteria

  • Known active hematologic disease affecting DNA quality
  • Inability to provide informed consent (require legal guardian)
  • Severe coagulopathy unless samples drawn by specialist

Emergency Red Flags (seek immediate care)

  • Sudden worsening of myoclonic jerks or status epilepticus
  • Respiratory distress or difficulty swallowing
  • Loss of consciousness lasting more than 5 minutes

Patient FAQ & Clinical Guidance

1. What does the PRICKLE2 genetic test detect, and how accurate is it?

Snippet: Our test identifies pathogenic mutations throughout the entire PRICKLE2 gene with 99.9% analytical sensitivity, distinguishing it from symptomatic mimics of progressive myoclonic epilepsy.

Using next-generation sequencing, the assay screens coding regions and splice sites, detecting single nucleotide variants, small insertions/deletions, and copy number variations. The result is validated by MLPA and reported according to ACMG guidelines, providing a definitive molecular diagnosis for EPM5.

يكتشف هذا الاختبار الطفرات المسببة للمرض في جين PRICKLE2 بحساسية تحليلية تبلغ 99.9%، مما يميز الصرع الرمعي المترقي عن الحالات المشابهة سريريًا.

2. Can this test be performed on children, and what are the legal requirements?

Snippet: Yes, the test is available for children under UAE law, requiring informed consent from a legal guardian and compliance with Federal Decree-Law No. 41 of 2024 on genetic data privacy.

A pediatric neurologist or clinical geneticist will evaluate the child beforehand. Blood collection is minimally traumatic using a single drop on an FTA card. All results are encrypted and stored per PDPL standards.

نعم، الفحص متاح للأطفال مع موافقة ولي الأمر طبقًا للمرسوم بقانون اتحادي رقم 41 لسنة 2024، وباستخدام عينة دم يسيرة على بطاقة حفظ.

3. How soon will I receive my results, and who will explain them?

Snippet: Results are ready within 3–4 weeks, and a DHA-licensed genetic counsellor will provide a 30-minute telephonic interpretation session, translating complex findings into actionable steps.

No result is released without a physician’s review. The report includes variant classification, clinical significance, and recommendations for family screening. Urgent findings are prioritized.

تصدر النتيجة خلال ٣–٤ أسابيع، ويقوم مستشار وراثي معتمد من هيئة الصحة بدبي بشرحها هاتفيًا وتوجيهك نحو الخطوات العلاجية المناسبة.

Pre- Information

All patients are required to provide a detailed clinical history of progressive myoclonic epilepsy symptoms. A genetic counselling session is mandatory to construct a three-generation pedigree chart of family members affected by PRICKLE2-related epilepsy. This ensures accurate interpretation of segregation patterns and recurrence risks. Samples accepted: Whole blood (EDTA tube), extracted DNA, or one drop of blood on an FTA card.

Book now via WhatsApp: +971 54 548 8731

Home collection available 8 AM – 11 PM across all Emirates.

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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Available in Arabic, English, Hindi & Urdu

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All reports reviewed by DHA-Certified physicians