Test Price
2,800 AEDโ Home Collection Available
SOBP Gene NGS Test for Intellectual Disability, Anterior Maxillary Protrusion & Strabismus in UAE | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity via ISO-accredited next-generation sequencing (NGS) with Sanger confirmation for all pathogenic variants.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test interpretation and genetic counselling included with every report.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyses the complete coding region and exon-intron boundaries of the SOBP gene (NM_001354512.2) to detect single-nucleotide variants, small insertions/deletions, and splicing variants associated with the syndromic triad of intellectual disability, anterior maxillary protrusion, and strabismus. Our laboratory protocol achieves a mean depth of coverage โฅ100x with 95% of the target region covered at โฅ30x. All clinically reportable variants are confirmed by Sanger dideoxy sequencing, ensuring zero false positives.
| Feature | Our SOBP NGS Test | Multi-Gene Intellectual Disability Panel |
|---|---|---|
| Sequencing Depth | Single gene, โฅ100x average | Multi-gene, 50โ80x average |
| Confirmation | NGS + Sanger confirmation mandatory | NGS only; Sanger on request |
| Turnaround Time | 3โ4 weeks (21โ28 business days) | 4โ6 weeks (28โ42 business days) |
| Sample Types Accepted | Whole blood, extracted genomic DNA, dried FTA card | Whole blood only |
Physician Insight & Safety Protocols
"The SOBP gene NGS test is a targeted molecular investigation indicated only when a patient presents with the characteristic syndromic constellation: global developmental delay, anterior maxillary protrusion, and strabismus. A positive result confirms the genetic aetiology, but it must be correlated with a complete neurological and dysmorphology assessment by a consultant medical geneticist. Variants of uncertain significance (VUS) are reported, and family segregation analysis is recommended to clarify pathogenicity. Do not base any clinical decision solely on a molecular result without specialist interpretation."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Important Advisory Notice
This genetic test is an adjunctive diagnostic tool and does not replace ongoing neurological monitoring or established treatment plans. Do not discontinue any prescribed medication, including anti-epileptic or psychotropic drugs, without prior consultation with your treating physician. Abrupt cessation of therapy may precipitate serious adverse events.
Exclusion Criteria & Clinical Contraindications
- Acute encephalopathy, uncontrolled seizures, or status epilepticus โ emergency medical stabilization is required before any blood draw for genetic testing.
- Minors under 18 years of age: a legal guardian must provide written informed consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Home-extracted or non-sterile DNA samples are strictly rejected; only laboratory-grade collection kits provided by DNA Labs UAE are accepted.
- Patients with a history of allogeneic bone marrow transplant must provide a pre-transplant archived sample to avoid donor DNA chimerism interfering with results.
Patient FAQ & Clinical Guidance
1. What is the SOBP gene test and why would I need it?
This targeted NGS test analyses the SOBP gene to identify pathogenic variants causing a rare autosomal dominant syndrome characterized by mild to moderate intellectual disability, prominent upper jaw (anterior maxillary protrusion), and strabismus. It is ordered when a child or adult presents with early-onset developmental delay, distinctive facial features, and ocular misalignment that together raise clinical suspicion. A confirmed molecular diagnosis enables precise genetic counselling, tailored early intervention, and accurate recurrence risk counselling for family members.
No specific preparation is required; however, you will be asked to provide a detailed three-generation family pedigree, which our genetic counsellor can help compile during a pre-test session.
2. How is the test performed and what sample is needed?
The test accepts three sample formats: (a) 3โ5 mL of whole blood collected in an EDTA vacutainer, (b) 5โ10 ยตg of high-molecular-weight genomic DNA extracted by a qualified laboratory, or (c) three complete blood spots on a sterile Whatman FTA card. Our VIP Mobile Phlebotomy service collects blood at your home between 8 AM and 11 PM using ISO-certified cold-chain packaging (2โ8ยฐC). No fasting, dietary, or medication changes are required; however, the collection site must be free from active infection or recent intravenous infusion.
For patients taking anticoagulants, the phlebotomist will apply extended pressure to minimize haematoma risk.
3. When will I receive my results and how should I interpret them?
Results are delivered within 3โ4 weeks (21โ28 business days) from the date of sample receipt. The report includes: (a) variant classification following ACMG/AMP 2015 guidelines, (b) a clinical significance statement for each variant, and (c) segregation recommendations for first-degree relatives if a VUS is identified. After the report is released, you will receive a telephonic consultation with our consultant medical geneticist to explain the findings, discuss implications, and plan next steps. A formal written copy is also provided for your treating physician.
Pre- and post-test genetic counselling sessions are included in the package cost. We strongly recommend that all family members at risk also undergo clinical evaluation before pursuing cascade testing.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under the regulatory oversight of the Dubai Healthcare City Authority (DHCA) and complies with all applicable federal legislation. Your genetic data is processed, stored, and transmitted in accordance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), which governs the lawful collection and processing of personal data, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, which sets out the cybersecurity and confidentiality requirements for health information systems. All laboratory personnel handling genetic data sign annual confidentiality agreements, and access to genomic sequence files is restricted to authorized bioinformaticians and molecular pathologists through role-based, audited access controls.
Your data is never stored on any server outside the UAE, and all transmission channels are encrypted using TLS 1.3 protocol. For any data subject access requests or concerns, contact our DPO via WhatsApp +971 54 548 8731.
Clinical & Logistical Metadata
| Test Name | SOBP Gene NGS Test โ Intellectual Disability, Anterior Maxillary Protrusion & Strabismus |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 weeks (21โ28 business days) from sample receipt |
| Sample Type / Matrix | Whole blood (EDTA), extracted genomic DNA, dried FTA card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina short-read platform, paired-end 150 bp, minimum 100x depth, with orthogonal Sanger confirmation for all reportable variants |
| ICD-10-CM Code | F70.9, Q87.8 |
| LOINC Code | 91606-7 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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