Test Price
2,800 AED✅ Home Collection Available
HAX1 Gene (Severe Congenital Neutropenia Type 3) Genetic Test in UAE | 2800 AED | DHA-Licensed
Executive Summary & Core Metrics
Diagnostic Precision: 99.9% analytical sensitivity for pathogenic variants in the HAX1 gene via ISO‑certified NGS processing with full bioinformatic validation.
Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM – 11 PM.
Clinical Guidance: Complimentary telephonic post‑test interpretation with a senior genetic counsellor.
Insurance Support: Direct billing verification and pre‑authorisation assistance via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The HAX1 NGS test comprehensively sequences the entire coding region and exon‑intron boundaries of the HAX1 gene, detecting point mutations, small insertions/deletions, and copy number variations responsible for autosomal recessive severe congenital neutropenia type 3 (Kostmann disease).
| Feature | Our NGS Test (DHA‑Licensed) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% analytical sensitivity; detection of single‑nucleotide variants, indels, and large rearrangements in a single assay. | Limited to targeted exons; may miss deep intronic or regulatory mutations; lower resolution for large deletions. |
| Methodology | NGS (Next‑Generation Sequencing) with high‑coverage analysis and orthogonal confirmation. | Capillary electrophoresis (Sanger) – gold standard but restricted in scope. |
| Turnaround Time | 3–4 weeks (complete clinical report with variant classification). | 2–3 weeks (partial gene coverage, may require reflex to NGS). |
Physician Insight & Safety Protocols
“Diagnosing severe congenital neutropenia type 3 through HAX1 sequencing provides families with a definitive molecular answer, enabling early initiation of G‑CSF therapy and infection prophylaxis. Each result must be correlated with absolute neutrophil counts, infectious history, and pedigree analysis. We are dedicated to supporting your family with clarity and compassion throughout the diagnostic journey.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Guidelines
- Medication Continuation: Do not discontinue any prescribed medications, especially G‑CSF or antibiotics, without consulting your supervising physician.
- Informed Consent: Genetic testing requires documented informed consent following a genetic counselling session, in compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria
- Asymptomatic Minors: Testing of individuals under 18 years of age without clinical indication or proper genetic counselling is prohibited under UAE health data regulations.
- Emergency Red Flags: Seek immediate emergency care if the individual develops fever >38.5 °C, signs of sepsis, deep skin abscesses, or severe oral ulcerations while awaiting results.
Patient FAQ & Clinical Guidance
1. What is the HAX1 gene and how does it cause severe congenital neutropenia type 3?
HAX1 gene mutations cause Kostmann syndrome, a life‑threatening condition marked by extremely low neutrophils from birth. The HAX1 protein is essential for maintaining mitochondrial membrane potential and preventing apoptosis in myeloid progenitor cells. Pathogenic variants disrupt this function, leading to maturation arrest and severe neutropenia, which predisposes infants to recurrent, often fatal bacterial infections. Early molecular diagnosis enables targeted management with G‑CSF therapy and infection prophylaxis.
2. Who should consider this test?
This test is strongly recommended for infants with recurrent severe infections and persistent neutropenia, and for their family members. Clinical indications include early‑onset sepsis, deep tissue abscesses, omphalitis, or a family history of unexplained infant deaths. Siblings of a confirmed case, even if asymptomatic, benefit from carrier screening. Adult patients with a suspicious clinical course or prior inconclusive work‑up should also be offered this definitive analysis.
3. How is the sample collected and what is the turnaround time?
We offer VIP mobile phlebotomy for home blood collection or an FTA card finger‑prick, with results delivered within 3 to 4 weeks. Our trained phlebotomists use ISO‑compliant cold‑chain transport. The sample is processed at our DHA‑licensed laboratory using high‑depth NGS, and the final report includes expert‑curated variant classification and clinical recommendations. Urgent preliminary results can be communicated earlier upon request.
UAE Regulatory & Data Privacy Adherence
Your genetic data is handled in strict 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. Results are transmitted through encrypted channels, and access is limited to authorised clinical personnel. Our DHA‑licensed facility (License No. 1143) adheres to national and international standards for genomic data security.
Clinical & Logistical Metadata
| Test Name | HAX1 Gene (Severe Congenital Neutropenia Type 3) Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Blood (Home Collection via VIP Mobile Phlebotomy or FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with high‑coverage analysis |
| ICD‑10‑CM Code | D70.0 |
| LOINC Code | 103000-6 |
| DHA Facility License & Laboratory Address | DNA Labs UAE | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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