Test Price
2,800 AED✅ Home Collection Available
SLC6A5 Gene Hyperekplexia Genetic Test in UAE | 2,800 AED | DHA-Licensed Laboratory
Executive Summary & Core Metrics
This advanced Next-Generation Sequencing (NGS) panel analyzes the full coding region of the SLC6A5 gene to detect pathogenic variants associated with hereditary hyperekplexia (startle disease). Performed in our ISO 9001:2015-certified facility, this test delivers 99.9% diagnostic sensitivity with a turnaround time of 3 to 4 weeks. Ideal for neonates presenting with exaggerated startle response, episodic neonatal apnea, and generalized stiffness, as well as for carrier screening in at-risk families.
- ✓ 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 Clinical Guidance in Result Interpretation by DHA-Licensed Specialists
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
The SLC6A5 Gene Hyperekplexia Genetic Test is a comprehensive molecular diagnostic assay that sequences the entire coding region of the SLC6A5 gene (solute carrier family 6 member 5), encoding the presynaptic glycine transporter GlyT2. Pathogenic loss-of-function variants in SLC6A5 disrupt glycinergic neurotransmission, producing the characteristic hyperekplexia phenotype — neonatal hypertonia, exaggerated startle response to tactile or auditory stimuli, and life-threatening apneic episodes. This assay detects point mutations, small insertions, deletions, and copy number variants using next-generation sequencing with orthogonal validation.
| Parameter | Our Test (ISO-Certified) | Closest Alternative |
|---|---|---|
| Precision | NGS Full Gene Sequencing (99.9% Sensitivity) | Single-Gene Sanger Sequencing (Limited Coverage) |
| Methodology | Next-Generation Sequencing (NGS) with CNV Detection | Targeted Mutation Panel (Predefined Hotspots Only) |
| Turnaround Time | 3 to 4 Weeks with Expedited Reporting Option | 6 to 8 Weeks (Dependent on Referral Lab) |
| Clinical Interpretation | DHA-Licensed Neurologist & Geneticist Dual Review | Automated Variant Annotation Only |
| Home Collection | Yes — VIP Mobile Phlebotomy & Cold-Chain Home Collection (8 AM – 11 PM) | Clinic Visit Required |
Physician Insight & Safety Protocols
"A positive SLC6A5 variant report provides molecular confirmation but must be integrated with the complete clinical profile including neonatal history, electromyography patterns, and therapeutic response to clonazepam. Pre- and post-test genetic counseling is a mandatory requirement under UAE law, particularly when asymptomatic minors are being evaluated. Families should view this result as the starting point for a structured, multidisciplinary care plan rather than a final verdict."
Clinical Pearl: Early molecular diagnosis of hyperekplexia enables timely pharmacologic intervention with clonazepam, which significantly reduces apnea-related morbidity and improves long-term neurodevelopmental trajectories.
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠ Critical Advisory
Do not discontinue, adjust, or initiate any prescribed medication — including clonazepam, other benzodiazepines, or anti-epileptic drugs — without consulting your supervising physician. Abrupt changes in hyperekplexia pharmacotherapy may precipitate severe rebound hypertonia, prolonged apnea, or autonomic instability. This genetic test provides diagnostic clarity; all treatment decisions remain exclusively under the authority of your DHA-licensed treating clinician.
🛑 Safety Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Do Not Proceed Without Clinical Clearance)
- Neonates with active, uncontrolled apneic episodes requiring ICU-level monitoring — stabilize first
- Severe anemia (Hb < 7 g/dL) contraindicating phlebotomy for whole-blood collection; use buccal swab alternative
- Absence of documented informed consent from legal guardian (mandatory for minors)
- Incomplete or absent pre-test genetic counseling session with pedigree documentation
🚨 Emergency Red Flags — Seek Immediate Medical Attention
- Prolonged apnea (>30 seconds) with cyanosis or oxygen desaturation
- Generalized tonic stiffening with respiratory compromise — risk of sudden infant death
- Exaggerated startle progressing to loss of consciousness or seizure-like activity
- New-onset feeding difficulties with aspiration risk in neonates
Patient FAQ & Clinical Guidance
1. What does the SLC6A5 NGS test detect and how reliable is it for confirming hyperekplexia?
This test sequences the entire SLC6A5 gene using Next-Generation Sequencing to detect pathogenic point mutations, small insertions, deletions, and copy number variants with 99.9% diagnostic sensitivity, establishing it as the gold-standard molecular confirmation tool for hereditary hyperekplexia. The assay covers all coding exons and exon-intron boundaries, identifying both known and novel variants that disrupt glycine transporter GlyT2 function. Results are interpreted according to ACMG/AMP variant classification guidelines and reviewed by a DHA-licensed neurologist and clinical geneticist. A positive result, when correlated with characteristic clinical findings (neonatal hypertonia, exaggerated startle, apneic episodes), provides definitive molecular diagnosis.
2. How long does it take to receive results and what does the report include?
The standard turnaround time is 3 to 4 weeks from sample accession. The final report includes detailed variant classification, zygosity status, in silico pathogenicity predictions, and personalized clinical correlation recommendations. Each report contains: (a) a list of detected variants with HGVS nomenclature, (b) ACMG/AMP classification (Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign), (c) allele frequency data from gnomAD and regional population databases, (d) literature citations supporting variant interpretation, and (e) a clinical summary for the referring physician. Expedited reporting options are available for critically ill neonates upon request.
3. Is the SLC6A5 genetic test covered by health insurance in the UAE?
Many UAE insurers provide coverage for medically necessary genetic testing when pre-authorized by a DHA-licensed neurologist or clinical geneticist. We offer direct billing verification via WhatsApp at +971 54 548 8731. Coverage depends on your individual policy terms, the presence of clinical indications (e.g., neonatal hypertonia, family history of hyperekplexia), and prior authorization from your insurance provider. Our patient support team assists with all pre-authorization documentation.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree-Law No. 4 of 2016 on Medical Liability
- DHA Facility License No. 1143
- ISO 9001:2015 Certified
- DHA-Licensed Specialist Review (Lina Osama Zaki Quteineh — DHA 9294403)
- ICD-10-CM: G25.82 (Hyperekplexia)
- LOINC: 86238-7 (Genetic Disease Sequence Analysis Panel)
- Methodology: NGS with CNV Detection
Clinical & Logistical Metadata
| Test Name | SLC6A5 Gene Hyperekplexia Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (Expedited options available for critically ill neonates) |
| Sample Type / Matrix | Whole Blood (EDTA tube), Extracted DNA (≥1µg), or One Drop Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV Detection and Orthogonal Validation |
| ICD-10-CM Code | G25.82 (Hyperekplexia) |
| LOINC Code | 86238-7 (Genetic Disease Sequence Analysis Panel) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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