Test Price
2,800 AED✅ Home Collection Available
CDKL5 Deficiency Disorder (Angelman-like Syndrome) Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
The CDKL5 genetic test utilises Next-Generation Sequencing to detect pathogenic variants associated with early-onset epileptic encephalopathy that mimics Angelman syndrome. This molecular confirmation supports targeted clinical management and family genetic counselling across the UAE.
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-certified NGS processing with comprehensive exon coverage.
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM – 11 PM.
- ✓Clinical Guidance: Post-test telephonic consultation with a DHA-licensed Consultant Medical Geneticist to interpret results in the full clinical context.
- ✓Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The CDKL5 (cyclin-dependent kinase-like 5) genetic test employs Next-Generation Sequencing to identify single nucleotide variants, small insertions/deletions, and copy number variants across the entire CDKL5 gene. This analysis provides definitive molecular confirmation of CDKL5 deficiency disorder, enabling accurate diagnosis, prognostic counselling, and tailored seizure management strategies for affected children and their families.
Analysis is performed on genomic DNA extracted from whole blood or dried blood spots using a validated NGS panel with minimum 50x depth of coverage across all coding exons and flanking intronic regions. Variants are classified according to ACMG/AMP guidelines and confirmed by Sanger sequencing when required. The complete workflow is ISO-certified and conducted in Dubai Healthcare City.
| Feature | DNA Labs UAE CDKL5 NGS Test | Alternative Single-Gene Approach |
|---|---|---|
| Precision | Full-gene NGS detects SNVs, indels, and CNVs with uniform coverage | Targeted Sanger sequencing limited to known hotspots only |
| Methodology | ISO-certified NGS with bioinformatic variant classification per ACMG | Conventional Sanger with lower throughput and sensitivity |
| Turnaround Time | 3–4 weeks including confirmation and reporting | 4–6 weeks average processing window |
Physician Insight & Safety Protocols
“Early and precise molecular diagnosis of CDKL5 deficiency disorder is fundamental for appropriate genetic counselling and anticipatory management. The NGS-based approach provides comprehensive coverage of the CDKL5 gene, enabling the detection of pathogenic variants that might otherwise be missed by conventional methods. A multidisciplinary care plan should follow confirmatory genetic testing, integrating neurology, developmental paediatrics, and clinical genetics.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory
Medication Stability Notice
Patients must continue all prescribed anti-epileptic medications during the testing period. Abrupt discontinuation of seizure therapy can precipitate status epilepticus and should only be adjusted by the treating neurologist based on integrated clinical and genetic information.
Exclusion Criteria & Safety Red Flags
Exclusion Criteria
- Inability to provide informed consent; legal guardian must consent for all minors.
- Recent blood transfusion within the past two weeks; a buccal swab alternative should be discussed with the laboratory.
- Acute severe illness requiring hospitalisation; sample collection must be deferred until clinical stability is achieved.
Emergency Red Flags
If the patient experiences prolonged convulsive activity lasting more than five minutes, breathing difficulties, cyanosis, or loss of consciousness, seek immediate emergency medical attention at the nearest hospital. Do not delay emergency care while awaiting genetic test results.
Patient FAQ & Clinical Guidance
1. What is the CDKL5 genetic test and why is it used?
The CDKL5 NGS test identifies disease-causing mutations in the cyclin-dependent kinase-like 5 gene, which is responsible for an early-infantile epileptic encephalopathy that closely resembles Angelman syndrome. The test is used to confirm the clinical diagnosis, guide seizure management, inform prognosis, and enable accurate genetic counselling for at-risk family members.
2. How is the sample collected for this genetic test?
Sample collection is performed via VIP Mobile Phlebotomy at your home or workplace. A trained phlebotomist draws a small volume of peripheral whole blood or collects a dried blood spot on an FTA card. The specimen is transported to our Dubai Healthcare City laboratory under ISO-certified temperature-controlled cold chain conditions. Service is available daily from 8 AM to 11 PM.
3. What is the turnaround time and what happens after results are ready?
Results are delivered within 3–4 weeks from sample receipt. A post-test telephonic consultation is scheduled with a DHA-licensed Consultant Medical Geneticist who explains the findings, correlates them with the clinical history, and provides a written care plan with recommendations for neurology follow-up, genetic counselling, and family member testing if indicated.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance 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. All genetic data is encrypted in transit and at rest, accessed only by authorised clinical personnel, and never shared with third parties without explicit patient consent. Clinical testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Our DHA-licensed facility at Dubai Healthcare City adheres to the highest standards of laboratory practice and information security.
Clinical & Logistical Metadata
| Test Name | CDKL5 Deficiency Disorder (Angelman-like Syndrome) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Whole Blood (peripheral) / Extracted DNA / Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with bioinformatic variant classification per ACMG/AMP guidelines |
| ICD-10-CM Code | G40.42 |
| LOINC Code | 94121-4 |
| 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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