Test Price
2,800 AED✅ Home Collection Available
GLRA1 Gene Hyperekplexia Genetic Test in UAE | 2,800 AED | DHA-Certified Laboratory
DHA-Certified LaboratoryExecutive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic Post-Test Genetic Counselling by a DHA-licensed Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The GLRA1 Gene Hyperekplexia Genetic Test utilizes Next-Generation Sequencing to comprehensively analyze all coding regions and splice sites of the GLRA1 gene, detecting even rare variants linked to hereditary hyperekplexia (startle disease). This test offers definitive molecular confirmation for patients with clinical suspicion, guiding precise management and family planning.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | Next-Generation Sequencing (NGS) | Single-gene Sanger Sequencing |
| Variant Detection | Full gene including deep intronic, copy number variants | Exons and flanking regions only; may miss large deletions |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Diagnostic Yield | >99.7% for known mutations | ~85% (limited by gene coverage) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I always interpret GLRA1 results within the full clinical and family context; a positive mutation confirms the diagnosis but does not predict severity. Please discuss all results with your managing doctor for personalized care and reproductive counselling.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Clinical Advisory
⚠️ Important Clinical Note
Do not discontinue prescribed medication without consulting your doctor. Genetic test results should never replace ongoing clinical management. Always correlate genetic findings with neurological examination and family history.
Patient Safety & Exclusion Criteria
- Minors: Testing on asymptomatic individuals under 18 requires parental/guardian consent in accordance with UAE Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Bleeding Risk: Blood draw is contraindicated for patients with severe coagulopathy or on high-dose anticoagulants without medical clearance.
- Pre-test Requirements: Mandatory genetic counselling session with pedigree chart documentation; clinical history of the proband and affected relatives must be provided.
🚑 Emergency Red Flags
- New-onset exaggerated startle reflex causing falls or injury.
- Episodes of generalized muscle stiffness with breathing difficulty (apneic spells).
- Neonatal hypertonia or severe apneic episodes in infants — seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. What does the GLRA1 gene test detect?
The GLRA1 NGS test detects all clinically significant variants in the GLRA1 gene, including point mutations, small indels, and copy number changes, providing a definitive molecular diagnosis of hereditary hyperekplexia.
2. How long does it take to receive results?
Results are delivered within 3 to 4 weeks from sample accession, including comprehensive bioinformatics analysis and a clinically curated report.
3. Is this test covered by insurance in the UAE?
Many UAE insurance plans cover medically indicated genetic testing; our billing team will verify your coverage via WhatsApp at +971 54 548 8731 before sample collection.
4. Who should consider this genetic test?
Patients with clinical suspicion of hyperekplexia (exaggerated startle, neonatal hypertonia, apneic spells), individuals with a family history of the condition, and couples seeking reproductive risk assessment are appropriate candidates.
5. Can the test distinguish between subtypes of hyperekplexia?
Yes, comprehensive NGS sequencing of all coding regions can identify GLRA1 mutations specifically. However, complementary testing of other genes (e.g., GLRB, GPHN) may be required for full differential diagnosis.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
- Data Privacy: Fully compliant 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.
- Medical Liability: Patient consent and safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: ISO 9001:2015 Certified (INT/EGQ/2509DA/3139).
- License: DHA Facility License No. 1143 (Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE).
Clinical & Logistical Metadata
| Test Name | GLRA1 Gene Hyperekplexia Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily (8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – full gene analysis including coding regions and splice sites |
| ICD-10-CM Code | G25.8 (Other specified extrapyramidal and movement disorders) |
| LOINC Code | 78948-8 (Hereditary hyperekplexia GLRA1 gene analysis) |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians