Test Price
2,800 AED✅ Home Collection Available
HOXA1 Gene Genetic Test for Athabaskan Brainstem Dysgenesis Syndrome in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
- ✔ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- ✔ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 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.
Test Overview & Methodology
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.
| 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 Protocols
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Notice
Do not discontinue any prescribed medication without consulting your doctor. This test is intended for diagnostic confirmation under specialist supervision.
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 Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Emergency: 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?
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. What are the symptoms of Athabaskan brainstem dysgenesis syndrome?
Symptoms include congenital horizontal gaze palsy, sensorineural hearing loss, brainstem abnormalities, and motor and cognitive developmental delay. 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?
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.
UAE Regulatory & Data Privacy Adherence
This test is conducted 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. Patient consent and clinical safety follow Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted and handled under strict confidentiality protocols.
Clinical & Logistical Metadata
| Test Name | HOXA1 Gene Genetic Test (NGS) for Athabaskan Brainstem Dysgenesis Syndrome |
| Price (AED) | 2,800 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (Illumina®) with Bioinformatic Confirmation |
| ICD-10-CM Code | Q87.89, H49.81, H90.3 |
| LOINC Code | 97570-2 |
| DHA Facility License & Laboratory Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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