Test Price
2,800 AED✅ Home Collection Available
ELANE Gene Sequencing for Severe Congenital Neutropenia Type 1 (NGS) in the UAE
Executive Summary & Core Metrics
- Diagnostic Precision: 99.9% analytical sensitivity and specificity via ISO 9001:2015 accredited next‑generation sequencing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available daily from 8 AM to 11 PM, ensuring sample integrity.
- Clinical Guidance: Complimentary telephonic post‑test interpretation with a DHA‑licensed genetic specialist to discuss results and next steps.
- Insurance & Payments: Direct billing verification through WhatsApp at +971 54 548 8731; all major UAE insurers accepted.
Test Overview & Methodology
The ELANE gene NGS test identifies pathogenic variants causing severe congenital neutropenia type 1 (SCN1), a rare inherited bone marrow failure disorder characterised by persistent neutropenia and recurrent infections. This test uses whole‑blood, extracted DNA, or FTA cards with a turnaround time of 3 to 4 weeks.
| Feature | Our NGS Test (ELANE Full Sequencing) | Closest Alternative (Targeted Sanger) |
|---|---|---|
| Methodology | Next‑Generation Sequencing with high‑depth coverage of all exons, splice sites, and known regulatory regions | Sanger sequencing of a limited number of preselected exons |
| Detection Rate | >99% of pathogenic variants, including novel mutations | Detects only known mutations in targeted regions; may miss rare variants |
| Reporting Speed | 3–4 Weeks | 2–3 Weeks (faster but less comprehensive) |
| Clinical Utility | Enables genotype‑phenotype correlation, G‑CSF therapy planning, and family screening | Suitable for already‑known familial variants only |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist, I recommend the ELANE NGS test for families with suspected severe congenital neutropenia because early molecular confirmation allows timely initiation of G‑CSF therapy and prophylactic antibiotics. However, genetic test results must always be interpreted alongside bone marrow findings, complete blood counts, and the child’s infection history.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403
Advisory – Medication Caution
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Active febrile illness (temperature >38.0°C), recent whole‑blood transfusion within 2 weeks, or ongoing systemic infection requiring intravenous antibiotics. In these cases, postpone specimen collection until the patient is clinically stable.
- Emergency Red Flags – Seek Immediate Medical Attention: High‑grade fever >38.5°C with chills, painful mouth ulcers, skin abscesses, or any signs of sepsis (rapid breathing, confusion, cold/clammy skin). These may indicate a life‑threatening neutropenic crisis.
- Always inform the laboratory if the patient is on granulocyte colony‑stimulating factor (G‑CSF); recent administration may affect blood counts but does not interfere with genetic testing.
Patient FAQ & Clinical Guidance
1. What does the ELANE gene test diagnose, and how does it help my child?
Direct Answer: This test confirms severe congenital neutropenia type 1 caused by ELANE mutations, enabling doctors to start G‑CSF therapy early to prevent life‑threatening infections.
For paediatric patients, an early molecular diagnosis clarifies the risk of recurrent bacterial infections and justifies lifelong surveillance by a paediatric haematologist and geneticist.
2. How is the test performed and what is the sample requirement?
Direct Answer: A certified phlebotomist collects a small blood sample (3–5 mL in an EDTA tube) or a finger‑prick onto an FTA card during a home visit.
We also accept previously extracted DNA if it meets quality standards. A mandatory pre‑genetic counselling session will be scheduled to draw a detailed family pedigree and explain the implications.
3. What support do I receive after the results are available?
Direct Answer: You will receive a comprehensive ISO‑accredited report, followed by a telephonic consultation with a DHA‑licensed genetic specialist to explain the findings and coordinate care.
We also facilitate direct referrals to paediatric haematologists in Dubai and Abu Dhabi for patients with confirmed SCN1. Insurance reimbursement assistance is provided via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All patient genomic data are encrypted, stored on UAE‑based servers, and never shared without explicit consent.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: This test is performed in a DHA‑licensed facility adhering to strict digital health security protocols.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Patient consent, clinical safety, and post‑test counselling follow the national medical liability framework.
- ISO 9001:2015 Certified: Laboratory processes conform to ISO 9001:2015 (Certificate: INT/EGQ/2509DA/3139), guaranteeing quality management from sample accessioning to report delivery.
- DHA Facility License No. 1143: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | ELANE Gene Sequencing for Severe Congenital Neutropenia Type 1 (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), extracted DNA, or FTA card |
| Methodology Used | Next‑Generation Sequencing (NGS) on Illumina NovaSeq platform; bioinformatic analysis with orthogonal confirmation of pathogenic/likely pathogenic variants |
| ICD-10-CM Code | D70.0, Z15.89, D70.8 |
| LOINC Code | 93685-6 |
| DHA Facility License & Laboratory Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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ISMS 27001:2022
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