Test Price
2,800 AEDโ Home Collection Available
NHEJ1 Gene Sequencing for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation & Radiosensitivity
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Next-Generation Sequencing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Complimentary telephonic post-test consultation with a DHA-licensed genetic counselor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test identifies pathogenic variants in the NHEJ1 gene, confirming a diagnosis of severe combined immunodeficiency (SCID) accompanied by microcephaly, growth retardation, and hypersensitivity to ionizing radiation. The full gene sequencing approach ensures detection of novel and deep intronic variants, providing a definitive molecular diagnosis for targeted clinical management.
| Feature | Our Test (NHEJ1 NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | NGS (Next Generation Sequencing) โ full gene coverage | Sanger sequencing โ limited to known hotspots |
| Diagnostic Precision | 99.9% sensitivity; detects novel & deep intronic variants | ~85% for known point mutations; misses large rearrangements |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks (with reflex to NGS if negative) |
Physician Insight & Safety Protocols
โAs a consultant in medical genetics, I recognize the complexity of severe combined immunodeficiency syndromes. This NGS-based analysis of the NHEJ1 gene provides a definitive molecular answer that, when integrated with thorough clinical evaluation, can guide life-saving therapeutic interventions and accurate family counseling. It is imperative to interpret all genetic results in the context of the patientโs clinical presentation to ensure optimal management.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Pre-Test Genetic Counseling
Before proceeding with NHEJ1 gene sequencing, we strongly recommend a pre-test genetic counseling session to discuss the implications of potential findings, including carrier status and the possibility of incidental discoveries. Informed consent will be obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria & Emergency Red Flags
- Individuals with known severe bleeding disorders contraindicating blood draw (e.g., haemophilia A with inhibitors).
- Patients under 1 month of age require specialized NICU collection โ coordinate separately via our hotline.
- Urgent warning: If the child develops severe infection, respiratory distress, or unexplained fever prior to sample collection, seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the NHEJ1 gene test and how does it help diagnose SCID?
This next-generation sequencing test thoroughly analyzes the entire NHEJ1 gene for mutations that cause a severe immunodeficiency with microcephaly, growth delay, and extreme sensitivity to radiation, enabling precise diagnosis and tailored treatment planning.
2. How should I prepare for the blood draw, and can my child take medications?
Maintain regular hydration and avoid fatty meals two hours before collection; continue all prescribed medications unless the physician advises otherwise to prevent clinical deterioration.
3. When will I receive results and what follow-up support is provided?
Results are delivered within 3 to 4 weeks via a secure online portal, and a complimentary telephonic consultation with a DHA-licensed genetic counselor is included to interpret the findings and plan next steps.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance
All patient data is handled 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 safety and informed consent align with Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is a DHA-licensed facility (License No. 1143) operating under the regulatory oversight of the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | NHEJ1 Gene Sequencing for Severe Combined Immunodeficiency with Microcephaly, Growth Retardation & Radiosensitivity |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood โ VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily 8 AM to 11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | D81.8 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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