Test Price
2,800 AED✅ Home Collection Available
HOXA1 Gene Genetic Test for Athabaskan Brainstem Dysgenesis Syndrome in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين HOXA1 لمتلازمة انحلال جذع الدماغ الأثاباسكانية في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
⚕️ Executive Summary | ملخص تنفيذي
- ✔ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- ✔ Premium Logistics: Paid Hospital‑Grade Home Collection via ISO Certified Cold‑Chain Home Collection & VIP Mobile Phlebotomy (8 AM–11 PM).
- ✔ Clinical Guidance: Telephonic Post‑Test Clinical Guidance for result interpretation with a DHA‑licensed genetic counsellor.
- ✔ Insurance Support: Direct Billing Verification via WhatsApp +971 54 548 8731.
ضمان دقة تشخيصية بنسبة 99.9% من خلال معالجة مخبرية معتمدة من هيئة الصحة بدبي وخدمة سحب منزلي وفق أعلى معايير سلسلة التبريد.
Test Overview
The HOXA1 Gene Genetic Test is a comprehensive next‑generation sequencing (NGS) analysis that evaluates the entire coding region of the HOXA1 gene for pathogenic variants causing Athabaskan brainstem dysgenesis syndrome (ABDS) – also known as Bosley‑Salih‑Alorainy syndrome. This rare neurodevelopmental disorder is characterised by congenital horizontal gaze palsy, sensorineural hearing loss, and structural brainstem malformations.
تغطي هذه التحليل الجيني الشامل كامل الجين باستخدام تقنية التسلسل من الجيل التالي للكشف عن الطفرات المسببة للمتلازمة، مما يساعد أطباء أعصاب الأطفال واختصاصيي الوراثة السريرية في التشخيص المبكر والتخطيط العلاجي.
| Feature | Our Test – HOXA1 NGS | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | Full gene sequencing with copy‑number variant detection | Targeted mutation screening; may miss large deletions |
| Methodology | NGS (Illumina® platform) with bioinformatic confirmation | Sanger sequencing (lower throughput) |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Clinical Utility | Diagnosis, family planning, carrier testing | Limited to known familial variant |
Physician Insight & Safety Protocol
— Dr. Prabhakar Reddy, DHA License: 61713011
⚠️ Medication Warning: Do not discontinue any prescribed medication without consulting your doctor.
🚨Patient Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: This test is indicated only for individuals with clinical features suggestive of ABDS (horizontal gaze palsy, sensorineural deafness, brainstem imaging abnormalities). It is not a general screening tool for asymptomatic individuals.
- Minors: Testing of individuals under 18 years requires documented legal guardian consent and pre‑test genetic counselling, in compliance with UAE CDS Law 2026.
- Emergency Red Flags: If the patient develops acute respiratory distress, aspiration pneumonia, or sudden neurological deterioration, prioritise immediate emergency care – do not delay medical stabilisation for genetic testing.
Patient FAQ & Clinical Guidance
1. What is the HOXA1 gene test for?
Snippet: The HOXA1 gene NGS test detects mutations responsible for Athabaskan brainstem dysgenesis syndrome (Bosley‑Salih‑Alorainy syndrome), a rare neurodevelopmental disorder.
It analyses the complete coding sequence of HOXA1, a gene crucial for early brainstem and inner ear development. Pathogenic variants cause a spectrum that includes bilateral horizontal gaze palsy, profound sensorineural hearing loss, developmental delay, and characteristic brainstem hypoplasia on MRI. The test is ordered by paediatric neurologists or clinical geneticists when clinical findings and family history suggest ABDS.
2. ما هي أعراض متلازمة انحلال جذع الدماغ الأثاباسكانية؟
المعلومة الأساسية: تشمل الأعراض شلل النظر الأفقي الخلقي وفقدان السمع الحسي العصبي وتشوهات جذع الدماغ وتأخر النمو الحركي والإدراكي.
Most affected individuals present in infancy with inability to move the eyes horizontally, severe hearing impairment detected by newborn screening, and hypotonia. MRI typically reveals a flattened pons and absent or hypoplastic facial colliculi. Early diagnosis through genetic testing enables targeted audiological, ophthalmological, and developmental interventions.
3. How should I prepare for the test?
Snippet: No fasting or special preparation is required; a blood sample or extracted DNA is collected after a mandatory genetic counselling session.
A clinical history interview and a detailed pedigree chart must be completed prior to sampling. The test can be performed on whole blood (EDTA tube), a dried blood spot on an FTA card, or previously extracted DNA. Our DHA‑licensed team provides home collection; simply WhatsApp +971 54 548 8731 to schedule a session.
DHA Facility License: 9834453 | ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139)
complies with Federal Decree‑Law No. 41 of 2024 (Art. 87), UAE CDS Law 2026 (minors’ genetic testing), and UAE PDPL data protection standards.
Top Relevant Specialists: Pediatric Neurologist, Clinical Geneticist, Neonatologist.
2026 ICD‑10‑CM: Q87.89, H49.81, H90.3 | LOINC: 97570‑2 (loinc.org/97570-2/)
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
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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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