Test Price
2,800 AEDโ Home Collection Available
ELP1 Gene HSAN3 Genetic Test โ NGS Panel, 2800 AED
Executive Summary & Core Metrics
- โAccuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- โPremium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily from 8 AM to 11 PM.
- โClinical Guidance: Telephonic Post-Test Genetic Counseling for result interpretation.
- โInsurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
ELP1 Gene HSAN3 Genetic Test is a next-generation sequencing (NGS) based analysis that screens the entire ELP1 gene for pathogenic variants associated with Hereditary Sensory and Autonomic Neuropathy Type III (Familial Dysautonomia). This comprehensive single-gene panel provides definitive molecular diagnosis and guides clinical management.
| Feature | Our Test (NGS Panel) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision / Sensitivity | >99.9% coverage of ELP1 coding regions & splice sites | ~95% โ limited to targeted amplicons only |
| Methodology | Next Generation Sequencing (NGS) with deep bioinformatics | Sanger sequencing of selected exons |
| Turnaround Time | 3โ4 Weeks (comprehensive report) | 2โ3 Weeks (often requires followโup testing) |
| Clinical Utility | Detects SNVs, indels, copy number variants โ definitive diagnosis | Misses large deletions/duplications; may require MLPA |
Physician Insight & Safety Protocols
โEvery genetic result tells a story, but it must be read within the patientโs full clinical picture. I urge you to interpret this ELP1 NGS report in concert with a comprehensive neurological and family history assessment. As a consultant medical geneticist, I emphasize that a genotype alone is not a diagnosis โ it is a guiding light that must be correlated with phenotype.โ
โ Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
โ Medication Advisory
Do not discontinue or modify any prescribed medication (e.g., antiepileptics, autonomic stabilizers) without consulting your treating physician. Genetic results may inform therapy but do not replace ongoing clinical management. Always seek professional medical advice before making changes.
๐จ Exclusion Criteria & Emergency Red Flags
- Patients unable to provide a blood/DNA sample due to severe dermatological conditions prohibiting venipuncture or FTA card collection.
- Individuals under 18 years lacking legal guardian consent per UAE regulatory requirements for genetic testing.
- Acute febrile illness or active infection that might compromise DNA integrity โ reschedule after recovery.
- Call Emergency (998) if you experience sudden autonomic crisis, severe respiratory distress, or uncontrolled seizures after test counselling.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the ELP1 NGS test for familial dysautonomia diagnosis?
This NGS test identifies pathogenic variants in the ELP1 gene with >99.9% sensitivity, enabling early diagnosis, targeted autonomic symptom management, and informed family planning. It detects single nucleotide variants, small indels, and copy number variants that are often missed by conventional methods.
2. How should I prepare for the sample collection and what samples are accepted?
No fasting is required. We accept whole blood (peripheral), dried blood spot on FTA card, or extracted DNA. All patients must complete a pre-test genetic counseling session and provide a three-generation pedigree to ensure accurate interpretation. Home collection via our VIP Mobile Phlebotomy service is available daily from 8 AM to 11 PM.
3. Is my genetic data protected under UAE law and international standards?
Yes, all genomic data is secured under the UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and processed in an ISO 9001:2015 accredited facility. We employ AES-256 encryption, anonymized identifiers, and never share identifiable data without explicit consent, compliant with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly adheres to all applicable UAE healthcare data protection regulations. Patient genetic data is processed under the framework of 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. Our laboratory operates with ISO 9001:2015 certification, ensuring that every sample is handled with the highest standards of privacy, security, and clinical accuracy. No identifiable genetic information is shared with third parties without the patientโs explicit written consent.
Clinical & Logistical Metadata
| Test Name | ELP1 Gene HSAN3 Genetic Test (NGS Panel) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral), Dried Blood Spot (FTA Card), or Extracted DNA โ VIP Mobile Phlebotomy & Cold-Chain Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) with Deep Bioinformatics Analysis |
| ICD-10-CM Code | G90.1 |
| LOINC Code | 94740-6 |
| DHA Facility License & Laboratory Address | DHA License: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians