Test Price
2,800 AED✅ Home Collection Available
ARHGEF9 Gene Sequencing (Early Infantile Epileptic Encephalopathy Type 8) NGS Test in Dubai | 2800 AED
Executive Summary & Core Metrics
This advanced NGS test analyzes the ARHGEF9 gene to identify pathogenic variants causing Early Infantile Epileptic Encephalopathy Type 8 (EIEE8). Performed at DNA Labs UAE's CAP-accredited facility in Dubai Healthcare City, the test provides 99.9% diagnostic accuracy. Benefits include targeted treatment guidance, family recurrence risk assessment, and a dedicated genetic counseling session upon results. The test is priced at 2,800 AED with a turnaround time of 21–28 working days. VIP mobile phlebotomy is available daily from 8 AM to 11 PM.
Test Overview & Methodology
The ARHGEF9 gene provides instructions for the collybistin protein, essential for GABAergic synaptic function. Pathogenic variants disrupt inhibitory neurotransmission, leading to severe early-onset seizures and developmental delay. Our targeted NGS assay on the Illumina NovaSeq platform provides 100% coverage of all coding exons and exon-intron boundaries at a depth of >30x.
| Feature | Our Test (Targeted NGS) | Whole Exome Sequencing (WES) |
|---|---|---|
| Precision | 100% coverage of ARHGEF9 coding exons ±10 bp, >30x depth | Broader scan, may miss deep intronic variants or have lower coverage for this gene |
| Methodology | NGS (Illumina NovaSeq) with bioinformatic pipeline tuned for EIEE8 | Exome capture, variable depth; often requires secondary targeted confirmation |
| TAT | 21–28 working days | 6–8 weeks (plus time for confirmatory Sanger if needed) |
| Clinical Interpretation | Dedicated EIEE8 report with ACMG classification and pharmacogenomic insights | Broad report, may lack focused paediatric epilepsy commentary |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specializing in pediatric neurogenetics, I emphasize that the identification of a pathogenic variant in ARHGEF9 provides a definitive molecular diagnosis for EIEE8. This result is crucial for tailored seizure management, anticipatory guidance, and precise family planning. However, genotype-phenotype correlations require careful integration with clinical and EEG findings.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA ID: 9294403
Medication Safety Advisory
Do not discontinue or alter prescribed antiepileptic medication without consulting the managing neurologist. Abrupt withdrawal can precipitate severe breakthrough seizures or status epilepticus. This genetic test is intended to inform long-term management strategy, not to guide acute medication changes without specialist oversight.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Acute febrile illness (temperature >38°C) at the time of collection; known coagulopathy or bleeding disorder; uncooperative child unable to remain still for venipuncture.
- ER Red Flags: New onset unprovoked cluster seizures within 24 hours of sample collection, prolonged lethargy, or signs of infection at the puncture site – seek immediate medical attention.
- Specimen Rejection: Improperly labelled tubes, samples >48 hours old, or those not transported in the approved cold-chain kit will be rejected and recollection arranged.
Patient FAQ & Clinical Guidance
1. What does the ARHGEF9 gene test detect and how accurate is it?
This test detects single nucleotide variants, small insertions/deletions, and copy number variations in the ARHGEF9 gene with greater than 99.9% sensitivity and specificity. It accurately identifies the molecular etiology of Early Infantile Epileptic Encephalopathy Type 8, enabling targeted antiepileptic therapy and precise genetic counseling regarding recurrence risks.
2. How is the sample collected and is home collection available?
A certified phlebotomist performs a standard venous blood draw (2–3 mL in an EDTA tube) or a painless finger-prick for an FTA card. Our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM. The sample is immediately placed in a temperature-controlled cold chain and transported to our CAP-accredited laboratory in Dubai Healthcare City.
3. What is the turnaround time and how will I receive my results?
The turnaround time is 21–28 working days from the date the sample is received by the lab. Results are reviewed by our Consultant Medical Geneticist and released via a secure encrypted PDF portal. A tele-genetic counseling session is scheduled to explain the findings, their implications, and recommended next steps.
4. Can I use my insurance to cover the 2,800 AED cost?
We provide direct billing verification to UAE insurers. Send your insurance card image via WhatsApp at +971 54 548 8731 and we confirm coverage within one hour. Many UAE health insurance policies cover genetic testing for epilepsy when ordered by a specialist and deemed medically necessary.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly adheres to the UAE's highest standards for medical data privacy and genetic testing. Patient data is processed and stored in compliance with:
- 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
Our laboratory is CAP-accredited and follows AACC/ACMG guidelines for clinical genetic testing.
Clinical & Logistical Metadata
| Test Name | ARHGEF9 Gene Sequencing (Early Infantile Epileptic Encephalopathy Type 8) |
| Price (AED) | 2,800 |
| Turnaround Time | 21 – 28 working days |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card |
| Methodology Used | Targeted NGS (Illumina NovaSeq) |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 103735-4 |
| DHA Facility License & Lab Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License #1143 |
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