Test Price
2,800 AED✅ Home Collection Available
JAGN1 Gene Genetic Test for Severe Congenital Neutropenia Type 6 (Autosomal Recessive) in UAE
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: Post-Test Telephonic Guidance and Genetic Counseling by a Consultant Medical Geneticist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The JAGN1 gene plays a critical role in the differentiation and survival of neutrophils. Autosomal recessive mutations in JAGN1 lead to Severe Congenital Neutropenia Type 6 (SCN6), a rare primary immunodeficiency characterized by recurrent, life-threatening bacterial infections. This targeted Next-Generation Sequencing (NGS) test, offered by DNA Labs UAE, provides comprehensive, high-coverage analysis of the JAGN1 coding region to facilitate precise clinical diagnosis, guide prophylactic management, and inform family planning through expert genetic counseling.
Our Test vs. Closest Alternatives
| Feature | Our JAGN1 NGS Test | Single-Gene Sanger Sequencing | Whole Exome Sequencing |
|---|---|---|---|
| Methodology | NGS (High Coverage) | Sanger (Point Mutations only) | NGS (All Coding Regions) |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks | 6–8 Weeks |
| Mutation Detection | >99.9% Sensitivity (incl. CNVs) | >99% for point mutations, not CNVs | Variable, incidental findings |
| Price (AED) | 2,800 | ~2,200 | 5,000–6,000 |
Physician Insight & Safety Protocols
"As a Consultant Medical Geneticist, I understand the profound implications of a rare genetic diagnosis. A confirmed JAGN1 mutation provides essential clarity for the clinical team, enabling targeted surveillance and proactive infection prophylaxis. Our multidisciplinary approach ensures that families receive not just a diagnosis, but a comprehensive care pathway supported by expert genetic counseling."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Medication & Clinical Advisory
⚠️ Important: Do not discontinue or modify prescribed medications, including prophylactic antibiotics or G-CSF therapy, without consulting your treating physician. This diagnostic test is intended to inform clinical management, not to replace ongoing treatment or emergency care for acute infections.
Exclusion Criteria & Emergency Red Flags
- Not indicated for acute febrile neutropenia episodes; stabilize the patient and treat infection prior to genetic workup.
- Contraindicated without prior genetic counseling or established clinical suspicion of congenital neutropenia.
- If the patient develops sudden fever >38.3°C, rigors, or signs of sepsis, seek emergency medical care immediately.
- Do not delay urgent hematology/oncology evaluation for severely abnormal or dropping blood counts.
Patient FAQ & Clinical Guidance
1. What is the JAGN1 gene test and why is it needed?
This targeted NGS test identifies mutations in the JAGN1 gene responsible for Severe Congenital Neutropenia Type 6 (SCN6). Early genetic confirmation allows for the timely initiation of prophylactic antibiotics and G-CSF therapy, significantly reducing the risk of life-threatening infections. Results also provide critical information for family planning and genetic counseling.
2. How is the test performed and what sample is required?
A standard peripheral whole blood sample (EDTA) is required. For your convenience, our VIP Mobile Phlebotomy service can collect the sample from your home or office via temperature-controlled cold-chain logistics. Extracted DNA or FTA cards are also accepted. No fasting or special preparation is necessary.
3. What do the results mean for my child's health?
A positive result confirms the genetic diagnosis of JAGN1-related neutropenia, guiding the need for regular blood count monitoring and prophylactic treatments. A negative or indeterminate result (Variant of Unknown Significance) does not entirely rule out the condition and requires detailed clinical correlation. Our post-test consultation with the Consultant Medical Geneticist will explain the implications and next steps.
4. How long does it take to get the results?
The turnaround time for the JAGN1 NGS test is 3 to 4 weeks from the date the sample is received by our laboratory. This allows for comprehensive sequencing, bioinformatics analysis, and clinical validation of any identified variants.
UAE Regulatory & Data Privacy Adherence
This service from DNA Labs UAE operates in full compliance with the UAE's legislative framework for healthcare and data protection:
- Data Privacy: Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health ICT: Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety: Federal Decree-Law No. 4 of 2016 on Medical Liability.
All genetic data is processed and stored exclusively on secure servers located within the UAE, under the direct supervision and regulatory oversight of the Dubai Health Authority (DHA).
Clinical & Logistical Metadata
| Test Name | JAGN1 Gene Genetic Test (Severe Congenital Neutropenia Type 6) |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) – High Coverage |
| ICD-10-CM Code | D70.0 (Congenital agranulocytosis) |
| LOINC Code | 82168-2 (Genetic analysis sequencing) |
| DHA License & Address | DHA Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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