Test Price
2,800 AED✅ Home Collection Available
CACNA1H Genetic Susceptibility Testing for Childhood Absence Epilepsy Type 6 in UAE – 2,800 AED
Executive Summary & Core Metrics
Key Highlights
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited processing and Sanger confirmation.
- Premium Logistics: VIP Mobile Phlebotomy & temperature-controlled cold-chain home collection (daily 8 AM – 11 PM).
- Clinical Guidance: Post-test genetic counseling and result interpretation via secure telephonic consultation.
- Insurance: Direct billing verification available through WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted genetic test employs Next-Generation Sequencing (NGS) to identify pathogenic variants in the CACNA1H gene, which confer susceptibility to childhood absence epilepsy type 6 (OMIM 607904). Early detection enables neurologists to initiate appropriate antiepileptic therapy and provide prognostic counseling for families. The analysis includes deep coverage of coding exons and flanking intronic regions, with all clinically significant variants confirmed by Sanger sequencing to guarantee accuracy.
| Feature | Our CACNA1H Test | Closest Alternative (Whole Exome Sequencing) |
|---|---|---|
| Precision | Targeted single-gene analysis with deep coverage | Broader but may miss deep intronic variants |
| Method | NGS + Sanger validation | WES with limited coverage |
| Turnaround Time | 3–4 weeks | 6–10 weeks |
| Price | 2,800 AED | ~5,000 AED+ |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403), notes: “A positive CACNA1H variant must always be correlated with the full neurological phenotype, EEG findings, and family history. The test result alone does not constitute a diagnosis; it is a guide for clinical decision-making. I recommend a mandatory post-test genetic counseling session to discuss implications for the child and family members.”
⚠️ Medication Advisory
Do not discontinue any prescribed antiepileptic medication without consulting your treating physician. Sudden withdrawal can precipitate seizure worsening or status epilepticus. Always maintain a seizure diary and report any changes to your neurologist.
Exclusion Criteria & Emergency Red Flags
- Inability to provide informed consent or legal guardian authorization as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- History of allogeneic bone marrow transplantation (may compromise germline DNA integrity).
- Active febrile illness or acute infection; sample collection may be deferred.
- ER Red Flags: Prolonged seizure (>5 minutes), seizure clusters, or any alteration in consciousness require immediate emergency medical attention.
Patient FAQ & Clinical Guidance
1. What is the purpose of this test?
This test detects CACNA1H gene variants that increase the risk of childhood absence epilepsy type 6. The result assists neurologists in confirming the diagnosis, selecting appropriate medication (e.g., ethosuximide or valproate), and providing accurate genetic counseling for recurrence risks in the family.
2. Is fasting required before sample collection?
No fasting or special preparation is required. A simple blood draw of 3–5 ml in an EDTA tube suffices. Maintain normal diet and medication schedule unless otherwise advised by your physician.
3. How long does it take to receive results?
Results are typically available within 3 to 4 weeks after sample receipt. A comprehensive report with variant classification, clinical interpretation, and management recommendations is delivered via a secure online portal. Telephonic consultation for result explanation is included.
4. Is home sample collection available?
Yes. A certified phlebotomist visits your home daily from 8 AM to 11 PM. The sample is transported under strict temperature-controlled cold-chain conditions to our ISO-accredited laboratory in Dubai Healthcare City.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
All genetic data handling strictly adheres to the 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. Patient information is encrypted, access-controlled, and never shared with third parties without explicit consent. Our facility operates under DHA License No. 1143, ensuring full regulatory oversight.
Clinical & Logistical Metadata
| Test Name | CACNA1H Genetic Susceptibility Test (Childhood Absence Epilepsy Type 6) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger validation |
| ICD-10-CM Code | G40.3 (Generalized idiopathic epilepsy and epileptic syndromes) |
| LOINC Code | 95857-7 (CACNA1H gene targeted mutation analysis) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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