Test Price
2,800 AED✅ Home Collection Available
PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A Genetic Test in UAE
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity
Accredited Next Generation Sequencing with ISO 15189:2012. Results delivered in 3–4 Weeks. Definitive molecular diagnosis for Progressive Myoclonus Epilepsy Type 1A.
VIP Mobile Phlebotomy & Cold-Chain Home Collection
Hospital-grade, ISO-certified home collection across Dubai, Abu Dhabi, Sharjah, and all Northern Emirates. Specimens accepted: whole blood, extracted DNA, or dried blood spot on FTA card. Available daily 8 AM – 11 PM.
Complimentary Post-Test Guidance
Telephonic result interpretation and clinical counseling by our medical genetics panel.
Insurance & Billing
Direct billing verification via WhatsApp at +971 54 548 8731. Approved by leading UAE insurers.
Test Overview & Methodology
This molecular diagnostic 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 symptomatic, pre-symptomatic, and carrier identification.
| Feature | Our Precision NGS | Closest Alternative (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 Protocols
"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. Patients must never self-discontinue antiepileptic drugs without direct neurologist consultation, as this can precipitate life-threatening status epilepticus."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Safety Advisory
Medication Warning
Do not discontinue prescribed antiepileptic or antimyoclonic therapy without consulting a neurologist. Abrupt withdrawal can cause severe seizure exacerbation and medical emergency.
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 acute care; patients on invasive ventilatory support or in status epilepticus. For newborns: critically low birth weight or inability to maintain thermoregulation.
Emergency Room Red Flags
If you or your child experience a seizure lasting longer than 5 minutes (status epilepticus), difficulty breathing, loss of consciousness after head injury, or sudden severe myoclonic jerks preventing safe ambulation, proceed to the nearest emergency department immediately. A molecular genetic result is not a substitute for emergent neurological evaluation.
Consent for Minors
Testing for minors requires documented informed consent from a parent or legal guardian with Emirates ID, in full compliance with 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. Genetic counseling is mandatory to construct 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. How does Next Generation Sequencing (NGS) work for this specific test?
NGS performs comprehensive, high-throughput sequencing of all exons and splice-site regions of the PRICKLE1 gene, enabling detection of point mutations, insertions, and deletions that traditional methods may miss. This ensures >99% sensitivity and specificity.
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. It provides highly stable, non-invasive DNA preservation, ideal for patients with difficult venous access or remote home collection.
4. What does a positive result mean for family planning?
A positive result confirms autosomal recessive inheritance. Each future pregnancy has a 25% chance of being affected. Carrier testing for parents and at-risk relatives is recommended. Genetic counseling is provided to discuss reproductive options.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance
All genetic data is processed and stored in strict compliance with 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. Patient consent and medical liability follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory holds DHA facility license No. 1143 and operates under ISO 15189:2012 accreditation.
Clinical & Logistical Metadata
| Test Name | PRICKLE1 Gene Progressive Myoclonus Epilepsy Type 1A Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Sequencing |
| ICD-10-CM Code | G40.3 (Progressive myoclonus epilepsy) |
| LOINC Code | 21636-6 (Genetic analysis) |
| DHA Facility License & 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