Test Price
2,800 AED✅ Home Collection Available
HAX1 Gene (Severe Congenital Neutropenia Type 3) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين HAX1 لكشف قلة العدلات الخلقية الشديدة (النوع الثالث) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Accuracy Guarantee: 99.9% diagnostic sensitivity for HAX1 pathogenic variants via ISO-certified NGS processing with full bioinformatic validation.
Premium Logistics: Paid hospital‑grade home collection through ISO‑certified cold‑chain transport and VIP mobile phlebotomy (8 AM – 11 PM).
Clinical Guidance: Complimentary telephonic post‑test interpretation of results with a senior genetic counsellor.
Insurance: Direct billing verification and pre‑authorisation support via WhatsApp +971 54 548 8731.
الملخص التنفيذي: يُقدّم هذا الاختبار الجيني الدقيق بتقنية التسلسل المتقدم تأكيدًا طفريًا لمرض قلة العدلات الخلقية الشديدة (كوستمان) عبر مختبر معتمد من هيئة الصحة بدبي، مع ضمان أعلى معايير الجودة والخصوصية وسهولة السحب المنزلي.
Test Overview
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). يستخدم الفحص تقنية التسلسل من الجيل التالي لتحديد الطفرات المسببة لمرض كوستمان بدقة عالية.
| 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 Protocol
“As a clinician, I understand the profound anxiety surrounding a potential severe congenital neutropenia diagnosis. The HAX1 genetic test provides definitive molecular confirmation, but it must be interpreted alongside absolute neutrophil counts, infectious history, and family pedigree. We are committed to guiding your family through every step of the diagnostic journey with compassion and expertise.”
— Dr. PRABHAKAR REDDY, DHA License 61713011, Senior Consultant Hematopathologist
Safety Information & Exclusion Criteria
- Medication Warning: Do not discontinue any prescribed medication, especially G‑CSF or antibiotics, without consulting your supervising physician.
- Not for asymptomatic minors: Testing of individuals under 18 without clinical indication or proper genetic counselling is prohibited under CDS Law 2026.
- Informed consent mandatory: Genetic testing requires documented informed consent following a genetic counselling session, in compliance with Federal Decree‑Law No. 41 of 2024, Art. 87.
- ER 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.
ما هو جين HAX1 وكيف يسبب قلة العدلات الخلقية الشديدة النوع الثالث؟
طفرات جين HAX1 تؤدي إلى متلازمة كوستمان، وهي حالة خطيرة تتميز بنقص حاد في الخلايا المتعادلة منذ الولادة.
2. Who should consider this test?
This 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.
من هم الأشخاص الذين يجب عليهم إجراء هذا الفحص؟
يُوصى بالفحص للرضع المصابين بالتهابات حادة متكررة مع قلة العدلات المستمرة ولأفراد عائلاتهم، خاصةً الأشقاء.
3. How is the sample collected and what is the turnaround time?
We offer painless home blood collection or an FTA card finger‑prick, with results delivered within 3 to 4 weeks. Our trained phlebotomists arrive at your home with ISO‑compliant cold‑chain transport. The sample is processed at our DHA‑licensed laboratory (Facility No. 9834453) 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.
كيف يتم جمع العينة وما هي مدة ظهور النتائج؟
نوفر خدمة سحب دم منزلي غير مؤلمة أو بقعة دم على بطاقة FTA، وتظهر النتائج خلال ٣ إلى ٤ أسابيع.
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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