Test Price
2,800 AED✅ Home Collection Available
UPF3B Gene Test for X-linked Intellectual Disability Type 14 (MRX14) – NGS in Dubai | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% via Next-Generation Sequencing (Illumina platform, 1000x depth) with full coding region and splice-site coverage.
- Turnaround Time: 3–4 weeks from sample receipt to final clinical report.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily from 8 AM to 11 PM) across Dubai and Abu Dhabi.
- Post-Test Guidance: Telephonic clinical consultation with a Consultant Medical Geneticist to interpret results and discuss recurrence risk.
- Insurance Verification: Direct billing confirmation via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The UPF3B gene test detects pathogenic variants linked to X-linked intellectual disability type 14 (MRX14) using Next-Generation Sequencing (NGS)—a technology that reads the entire coding region with single-nucleotide resolution. This test provides the highest diagnostic yield for families with an X-linked pattern of cognitive impairment and is the preferred molecular diagnostic tool for neurologists, medical geneticists, and clinical researchers seeking definitive genetic confirmation.
| Parameter | Our Test (NGS, ISO-Certified) | Closest Alternative (Targeted Panel / Sanger) |
|---|---|---|
| Diagnostic Sensitivity | 99.9% (complete coding region + splice sites) | ~85% – limited to known hotspot variants |
| Methodology | Next-Generation Sequencing (Illumina platform, 1000x depth) | Sanger sequencing (single exon focus) |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| ACMG Variant Interpretation | Full clinical classification with ≥2 genetic counselors review | Often preliminary; requires orthogonal confirmation |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist registered under DHA license 9294403, I emphasize that genetic testing for UPF3B should never be viewed in isolation. A negative result does not exclude other forms of intellectual disability; we therefore integrate the NGS report with a complete metabolic workup, neuroimaging, and developmental assessment. My commitment is to ensure every family receives empathetic, comprehensive counseling before and after molecular testing.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory: Medication Continuity
Do not discontinue prescribed anti-epileptics, neuroleptics, or any long-term medication without consulting your treating physician. This genetic test is for diagnostic classification and does not replace ongoing clinical management.
Exclusion Criteria & Emergency Red Flags
- Sample unsuitability: Specimens older than 24 hours without EDTA/DNA stabilization; clotted whole blood; FTA cards with visible fungal growth.
- Transient biological interference: Blood transfusion within the last 2 weeks; ongoing chemotherapy with nucleoside analogs (may cause false mosaicism).
- Emergency Red Flags: If you or your child experiences acute neurological deterioration, loss of consciousness, new-onset seizures, or stroke-like symptoms, seek immediate ER care. This test is not an emergency diagnostic.
Patient FAQ & Clinical Guidance
1. What is the UPF3B gene test and who should consider it?
This NGS test analyzes the entire UPF3B coding region to identify mutations causing X-linked intellectual disability type 14. It is suitable for males with unexplained moderate-to-profound developmental delay and a family history consistent with X-linked inheritance. The test definitively establishes a molecular diagnosis, informs recurrence risk, and guides early intervention strategies for neurologists and genetic counselors.
2. How accurate is this NGS test and what does a positive result mean?
With 99.9% analytical sensitivity and full coverage of all exons, a positive report confirms a pathogenic UPF3B variant as the primary cause of intellectual disability in over 95% of clinically suspected cases. Positive findings allow precise genetic counseling, carrier testing for maternal relatives, and tailored educational and therapeutic support for the affected child.
3. How does the home collection service work in Dubai and Abu Dhabi?
Our DHA-licensed phlebotomists arrive at your doorstep within 90 minutes (8 AM–11 PM) using a temperature-controlled cold chain. We collect either 3 mL of whole blood in an EDTA tube or a dried blood spot on an FTA card. WhatsApp +971 54 548 8731 to schedule and verify insurance coverage before the visit.
4. Can a negative result rule out all genetic causes of intellectual disability?
No. A negative UPF3B result does not exclude other genetic or non-genetic causes of intellectual disability. Additional testing such as whole exome sequencing, chromosomal microarray, or metabolic screening may be recommended by your genetic specialist based on the clinical presentation.
UAE Regulatory & Data Privacy Adherence
All testing performed at DNA Labs UAE complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring your genetic data is processed under strict privacy controls.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing electronic health records and digital data security.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – safeguarding patient consent and clinical safety standards.
Accreditation: ISO 9001:2015 Quality Management System – Certificate No. INT/EGQ/2509DA/3139.
Clinical & Logistical Metadata
| Test Name | UPF3B Gene Mental Retardation, X-linked Type 14 (Genetic Test) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (Illumina platform, 1000x depth) |
| ICD-10-CM Code | F79, Z13.89, Z14.8 |
| LOINC Code | 81768-4 |
| DHA Facility License & Laboratory Address | DHA Facility License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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