Test Price
2,800 AEDโ Home Collection Available
SNAP29 Gene CEDNIK Syndrome Genetic Test in Dubai Healthcare City
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
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 for result interpretation by DHA-licensed specialists.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731 (DHA Facility License: 1143).
Advanced NGS DNA testing for pathogenic SNAP29 gene mutations causing CEDNIK syndrome (Cerebral Dysgenesis, Neuropathy, Ichthyosis, Palmoplantar Keratoderma), priced at 2,800 AED, with DHA-supervised home collection available.
Test Overview & Methodology
SNAP29 Gene CEDNIK Syndrome DNA Test Overview
The SNAP29 Gene CEDNIK Syndrome Genetic Test uses Next-Generation Sequencing (NGS) for accurate molecular diagnosis, carrier screening, and guiding genetic counselling for families at risk. This full gene sequencing approach detects pathogenic variants associated with cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
| Feature | Our Test โ NGS Full Gene Sequencing | Closest Alternative โ Single-Exon/Targeted Panel |
|---|---|---|
| Precision | Detects >99% of pathogenic variants including deep intronic and copy-number changes | Limited to selected exons; may miss ~15% of causative mutations |
| Methodology | Illumina NovaSeq X Plus NGS with ISO 9001:2015 accredited laboratory | Sanger sequencing or outdated gene panels without full bioinformatics support |
| Turnaround Time | 3โ4 Weeks (clinical report with interpretation) | Often 6โ8 Weeks; delayed clinical correlation |
| UAE DHA Compliance | Fully aligned with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 | May lack local regulatory acknowledgment |
Physician Insight & Safety Protocols
โGenetic confirmation of CEDNIK syndrome through comprehensive SNAP29 gene sequencing provides families with definitive molecular answers. However, results must always be correlated with clinical presentation and interpreted within the context of the full neurological and dermatological evaluation. This test is a powerful diagnostic tool but does not replace specialised clinical assessment.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Critical Precautions
Do not discontinue prescribed medication without consulting your doctor. Genetic test results inform long-term management but never replace immediate medical supervision. All genetic testing is conducted under the provisions of Federal Decree-Law No. 4 of 2016 on Medical Liability governing clinical testing safety and patient consent.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Individuals without clinical features suggestive of CEDNIK syndrome (e.g., absence of ichthyosis, neuropathy, or cerebral dysgenesis) are not candidates for this test.
- Minors: Genetic testing in patients under 18 requires documented informed consent from a legal guardian in compliance with Federal Decree-Law No. 4 of 2016.
- Bleeding Risk: Patients with known platelet disorders or on anticoagulant therapy must inform the phlebotomist prior to blood collection to mitigate haematoma risk.
- ER Red Flags Post-Collection: Seek emergency care if you experience excessive bleeding, swelling, signs of infection (redness, pus, fever), or severe dizziness following sample collection.
- Result Interpretation: A negative result does not completely rule out CEDNIK syndrome if clinical suspicion remains high; further evaluation by a medical geneticist is advised.
Patient FAQ & Clinical Guidance
1. What is the SNAP29 gene test used for?
Snippet Killer: The SNAP29 genetic test diagnoses CEDNIK syndrome by identifying pathogenic variants in the SNAP29 gene, enabling tailored medical management and informed family planning.
2. How is the sample collected for this test in the UAE?
Snippet Killer: A simple blood draw is performed during a VIP home collection by our DHA-licensed phlebotomists, with temperature-controlled cold-chain transport to the ISO-accredited laboratory.
3. How long does it take to receive results, and what is the cost?
Snippet Killer: Results are available within 3โ4 weeks for 2,800 AED, with post-test clinical guidance included from our Consultant Medical Genetics specialist.
UAE Regulatory & Data Privacy Adherence
Your Data, Your Rights: Full Compliance with UAE Law
All genetic data is processed and stored 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. Clinical testing safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Your results remain strictly confidential and are only shared with your designated healthcare provider.
Clinical & Logistical Metadata
| Test Name | SNAP29 Gene CEDNIK Syndrome Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks (clinical report with specialist interpretation included) |
| Sample Type / Matrix | Peripheral Whole Blood (3โ5 mL in EDTA tube) โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina NovaSeq X Plus, ISO 9001:2015 Accredited (Cert: INT/EGQ/2509DA/3139) |
| ICD-10-CM Code | Q87.8 โ Other specified congenital malformation syndromes affecting multiple systems |
| LOINC Code | 91719-8 โ SNAP29 gene targeted mutation analysis in Blood or Tissue by NGS |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians