Test Price
2,800 AED✅ Home Collection Available
ASXL1 Gene Bohring-Opitz Syndrome NGS Genetic Test in UAE | 2800 AED | DHA Licensed Lab
Executive Summary & Core Metrics
ISO 9001:2015 Certified Lab. Next Generation Sequencing with validated bioinformatics pipeline. Clinically actionable reports.
ISO Certified Cold-Chain Logistics. Trained phlebotomists available 8 AM – 11 PM daily. Minimal discomfort, FTA card option for infants.
Telephonic result interpretation session with a genetic counsellor. Personalized care pathway recommendations.
Send policy details via WhatsApp to +971 54 548 8731 for instant eligibility check. Seamless direct billing with major UAE insurers.
This advanced genetic test provides definitive molecular diagnosis of Bohring-Opitz syndrome through next‑generation sequencing, following the highest DHA standards and compliance with UAE data protection laws. Our ISO 9001:2015 certified laboratory ensures 99.9% accuracy with comprehensive clinical guidance and home collection service available daily.
Test Overview & Methodology
The ASXL1 Gene Bohring-Opitz Syndrome NGS test is a definitive molecular diagnostic assay that sequences the entire coding region of the ASXL1 gene using next‑generation sequencing. It identifies pathogenic variants responsible for Bohring-Opitz syndrome (BOS), a rare genetic condition characterized by distinctive facial features, severe intellectual disability, and multiple congenital anomalies. Early molecular confirmation enables precise medical management, genetic counselling, and family planning.
| Feature | Our ASXL1 NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – full gene coverage | Single-exon Sanger sequencing; limited to known hotspots |
| Detection Rate | >99% of coding variants including novel mutations | Approx. 85% – misses deep intronic / large rearrangements |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| ISO 9001:2015 Accreditation | ✔ (Cert: INT/EGQ/2509DA/3139) | Often not accredited |
| UAE Insurance Support | Direct billing with WhatsApp pre-verification | Limited or out-of-pocket |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics practicing in Dubai, I emphasize that the ASXL1 NGS test is a powerful diagnostic tool for Bohring-Opitz syndrome, yet it must always be interpreted alongside a complete clinical evaluation and family history. A positive result confirms the diagnosis; however, a negative result does not exclude the syndrome if the clinical suspicion remains high—particularly if typical craniofacial features and developmental delays are present. In such cases, broader genomic testing such as whole exome sequencing should be considered. Genetic counselling before and after testing is essential to guide families through the implications.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Medication Warning
⛔ Do Not Alter Treatment Without Physician Consultation
Genetic test results are an adjunct to clinical judgment, not a substitute. Do not discontinue, initiate, or modify any prescribed medication or care plan based solely on this report without direct consultation with your treating specialist.
Exclusion Criteria
- Insufficient DNA quality or degraded sample (re-collection may be required).
- Lack of informed consent by legal guardian (mandatory for minors per UAE Federal Decree-Law No. 4 of 2016 on Medical Liability).
- No clinical indication or family history suggestive of Bohring-Opitz syndrome.
- Patient not in a clinically stable condition for blood draw (relative exclusion).
Patient FAQ & Clinical Guidance
1. What is the ASXL1 Gene Bohring-Opitz Syndrome NGS test and who is it for?
This test sequences the entire ASXL1 gene via next‑generation sequencing to detect pathogenic variants causing Bohring-Opitz syndrome, a rare congenital disorder with distinctive craniofacial features, severe developmental delays, and multiple organ anomalies. It is indicated for infants and children with clinical suspicion, as well as for family members where a mutation has already been identified.
2. How is the sample collected and what preparation is needed?
The laboratory accepts whole blood in EDTA tube, extracted DNA, or a simple one‑drop blood spot on an FTA card—ideal for neonates. A pre‑test genetic counselling session is mandatory to review the clinical history and draw a three‑generation pedigree; no fasting or medication changes are required unless directed by your doctor.
3. How accurate is this test and what if the result is negative?
With an analytical sensitivity exceeding 99.9% for single nucleotide variants and small indels in the ASXL1 coding region, a negative result makes a canonical Bohring-Opitz diagnosis unlikely; however, a negative report does not rule out atypical presentations, mosaicism, or deep intronic mutations that may require broader genomic testing such as whole exome sequencing.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL): All personal genetic data is processed with strict confidentiality and only with explicit consent, compliant with UAE data protection standards.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Health information systems handling genetic data meet the required security and interoperability standards.
- Federal Decree-Law No. 4 of 2016 on Medical Liability: Informed consent is obtained prior to testing, and clinical protocols follow established liability guidelines for genetic diagnostics.
- ISO 9001:2015 Certificate (INT/EGQ/2509DA/3139): International quality management system ensuring diagnostic accuracy, process integrity, and continuous improvement.
Clinical & Logistical Metadata
| Test Name | ASXL1 Gene Bohring-Opitz Syndrome NGS Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) – Full coding region coverage |
| ICD-10-CM Code | Q87.8, Z15.8, Z13.71 |
| LOINC Code | 76699-5 |
| 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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