Test Price
2,800 AED✅ Home Collection Available
GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
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).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection 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 Consultant Medical 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.
Test Overview & Methodology
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 Next-Generation Sequencing. This assay 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 Protocols
Lina Osama Zaki Quteineh
Consultant Medical Genetics | DHA Registration ID: 9294403
A genetic diagnosis of GOSR2-related Progressive Myoclonus Epilepsy Type 6 provides definitive molecular confirmation for patients and families, ending what is often a prolonged diagnostic odyssey. I emphasise to every patient that this result must be interpreted alongside clinical history, neurophysiological findings, and a three-generation pedigree chart. A pathogenic variant confirms the diagnosis and enables targeted management, while a variant of uncertain significance does not exclude the clinical phenotype and warrants further investigation with a comprehensive 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) per Federal Decree-Law No. 4 of 2016 on Medical Liability
- For minors under 18: absence of parental or court-appointed guardian consent
- 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
1. 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.
2. 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.
3. 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-test clinical guidance session. A VUS result warrants periodic reanalysis as new scientific evidence emerges.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) — All genetic data is processed, stored, and transmitted in full compliance with UAE federal data protection standards.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields — Electronic health records and telemedicine protocols adhere to federal ICT security requirements.
- Federal Decree-Law No. 4 of 2016 on Medical Liability — Patient consent, clinical safety, and medical liability frameworks follow this governing legislation.
- DHA Facility License No. 1143 — Operated under the regulatory oversight of the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | GOSR2 Gene Progressive Myoclonus Epilepsy Type 6 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (3–5 mL in EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) with Bioinformatic Variant Calling |
| ICD-10-CM Code | G40.3 |
| LOINC Code | 55233-1 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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