Test Price
2,800 AED✅ Home Collection Available
GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين GOSR2 للصرع الرمعي العضلي المترقي من النوع السادس في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary — ملخص تنفيذي
Accuracy Guarantee: 99.9% Diagnostic Sensitivity achieved via ISO 9001:2015 accredited NGS processing. This single-gene sequencing assay delivers comprehensive coverage of all coding exons and splice-site junctions of the GOSR2 gene, ensuring clinically actionable variant detection for Progressive Myoclonus Epilepsy Type 6 (PME6). يضمن هذا التحليل الجيني الدقيق تغطية شاملة لجين GOSR2 وفق أعلى معايير الجودة المعتمدة دولياً.
Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy available daily from 8:00 AM to 11:00 PM across all seven Emirates. DNA samples are transported at 2–8°C with continuous temperature monitoring.
Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance in result interpretation provided by a DHA-licensed Clinical Geneticist. Pre-test genetic counselling session is mandatory to draw a pedigree chart of family members affected with GOSR2-related Progressive Myoclonus Epilepsy Type 6.
Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731. We coordinate with UAE insurance providers for pre-authorization of genetic testing services.
Overview
The GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 Genetic Test is a definitive molecular diagnostic tool that analyzes the entire coding sequence of the GOSR2 gene using Genetic Test identifies pathogenic variants including the founder mutation p.Gly144Trp, enabling early diagnosis, family cascade screening, and informed clinical management decisions.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; full gene coverage including deep intronic boundaries | ~95% sensitivity; limited to individual exons per run |
| Methodology | NGS (Next Generation Sequencing) with bioinformatic variant calling | Sanger Sequencing (single-amplicon, chain-termination method) |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks (cumulative for full gene) |
| Clinical Reporting | ACMG-classified variants with DHA-compliant interpretive report | Basic electropherogram with limited clinical annotation |
Physician Insight & Safety Protocol
Dr. Prabhakar Reddy
DHA License: 61713011 • Consultant Neurologist
A genetic diagnosis of GOSR2-related Progressive Myoclonus Epilepsy Type 6 is a profound moment for patients and families—it provides clarity after what is often years of diagnostic uncertainty. I emphasize to every patient that this test result must be interpreted within the full context of your clinical history, neurophysiological findings, and family pedigree; a positive result confirms the molecular diagnosis and guides targeted management strategies including antiepileptic drug selection and myoclonus control. A negative or variant of uncertain significance (VUS) result does not exclude the clinical diagnosis and should prompt further evaluation with a broader epilepsy gene panel or whole-exome sequencing.
⚠ Critical Medication Advisory
Do not discontinue prescribed antiepileptic medications (including valproic acid, levetiracetam, clonazepam, zonisamide, or perampanel) without consulting your treating neurologist. Abrupt cessation of antiepileptic drugs may precipitate status epilepticus, a life-threatening medical emergency.
⚠ Exclusion Criteria & Emergency Red Flags
Exclusion Criteria for Testing
- Recent whole blood transfusion (within 14 days) — may compromise DNA purity
- Inability to provide informed consent (patient or legal guardian)
- For minors under 18: absence of parental or court-appointed guardian consent per UAE CDS Law 2026
- Active chemotherapy within 2 weeks (may affect leukocyte DNA yield)
ER Red Flags — Seek Immediate Medical Attention
- Status epilepticus: any seizure lasting >5 minutes or recurrent seizures without recovery
- Severe myoclonus compromising airway, breathing, or swallowing
- Acute neurological deterioration with loss of consciousness
- Unexplained fever with worsening seizures (rule out metabolic crisis)
Patient FAQ & Clinical Guidance
What is the GOSR2 gene test and why is it ordered?
The GOSR2 Genetic Test is a specialized DNA sequencing assay that detects pathogenic mutations in the GOSR2 gene responsible for Progressive Myoclonus Epilepsy Type 6—a rare inherited neurodegenerative disorder presenting with action myoclonus, generalized tonic-clonic seizures, ataxia, and cognitive decline. This test is ordered by neurologists and clinical geneticists when a patient exhibits characteristic clinical features including adolescent-onset myoclonus, EEG abnormalities, and progressive neurological deterioration. Confirming a GOSR2 mutation enables definitive diagnosis, guides antiepileptic therapy selection, facilitates family genetic counselling, and supports reproductive decision-making for at-risk relatives.
ما هو تحليل جين GOSR2؟ هو اختبار جيني متخصص يستخدم تقنية التسلسل من الجيل التالي للكشف عن الطفرات المسببة للصرع الرمعي العضلي المترقي من النوع السادس، وهو اضطراب وراثي نادر يتميز بالرمع العضلي والنوبات التشنجية والتراجع العصبي.
Who should consider undergoing this genetic test?
Individuals presenting with adolescent or early-adult onset action myoclonus, generalized seizures, and progressive ataxia—particularly those with a family history suggestive of autosomal recessive inheritance or consanguinity—are prime candidates for GOSR2 genetic testing. Additionally, asymptomatic siblings of a confirmed GOSR2 patient may pursue carrier testing to assess reproductive risk. UAE families with known consanguinity should consider cascade screening as recommended by their clinical geneticist. A pre-test genetic counselling session is mandatory to review the pedigree chart and discuss potential psychosocial implications of a confirmed molecular diagnosis.
من يجب أن يخضع لهذا الفحص الجيني؟ يُنصح بهذا الفحص للأفراد الذين يعانون من الرمع العضلي الحركي والنوبات والترنح التدريجي، خاصة مع وجود تاريخ عائلي للإصابة أو زواج الأقارب، وكذلك للأشقاء غير المصابين لتقييم حالة الحامل الجيني.
How are results interpreted and what actions follow a positive diagnosis?
Results are interpreted by a board-certified clinical geneticist using ACMG/AMP variant classification guidelines and are reported as Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, or Benign—with each category carrying distinct clinical implications for the patient and at-risk family members. A positive (Pathogenic/Likely Pathogenic) result confirms PME6 at the molecular level and triggers a multidisciplinary care plan including neurologist-led antiepileptic optimization, physical therapy for myoclonus management, and genetic counselling for family members. All patients receive a complimentary telephonic post- clinical guidance session. A VUS result warrants periodic reanalysis as new scientific evidence emerges.
كيف يتم تفسير النتائج؟ تُفسر النتائج وفق إرشادات الكلية الأمريكية لعلم الوراثة الطبية، وتُصنف إلى مسبب للمرض أو محتمل الإمراض أو غير محدد الأهمية أو حميد، مع جلسة استشارية هاتفية مجانية بعد صدور التقرير لتوضيح الخطوات السريرية التالية.
✔ ISO 9001:2015 Certified
Cert: INT/EGQ/2509DA/3139 • Facility License: 9834453
✔ UAE Legal Compliance
Federal Decree-Law No. 41 of 2024 (Art. 87) • CDS Law 2026 (Minors) • UAE PDPL
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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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