Test Price
2,800 AED✅ Home Collection Available
AFF2 Gene (FRAXE Fragile Site) Mental Retardation, X-Linked NGS Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Comprehensive NGS sequencing of the AFF2 gene for definitive diagnosis of X-linked mental retardation associated with the FRAXE fragile site. This test achieves 99.9% diagnostic sensitivity through ISO‑accredited processing, with secure specimen logistics via VIP Mobile Phlebotomy and temperature‑controlled cold‑chain home collection (available daily 8 AM to 11 PM).
- Diagnostic Accuracy: 99.9% for point mutations, deletions, and full mutations.
- Turnaround Time: 3–4 weeks (expedited VIP service available).
- Logistics: VIP Mobile Phlebotomy & temperature‑controlled cold‑chain home collection.
- Post‑Test Guidance: Telephonic clinical result interpretation by Board‑Certified Geneticist.
Test Overview & Methodology
The AFF2 Gene (FRAXE Fragile Site) Mental Retardation, X‑Linked NGS test delivers high‑coverage next‑generation sequencing of the entire AFF2 coding region, untranslated regions, and flanking intronic sequences. The assay includes copy number variation (CNV) analysis and methylation profiling of the FRAXE locus, enabling detection of full‑spectrum pathogenic variants – from single‑nucleotide substitutions to large structural rearrangements.
| Feature | Our AFF2 NGS Test | Conventional FRAXE PCR/Southern Blot |
|---|---|---|
| Method | Next‑Generation Sequencing (NGS) with complete gene coverage, copy number analysis, and methylation profiling | PCR‑based targeted repeat expansion analysis and Southern blot for methylation |
| Diagnostic Sensitivity | 99.9% for point mutations, deletions, and full mutations | ~85% for large expansions; may miss rare variants |
| Turnaround Time | 3–4 weeks (expedited VIP service available) | 4–6 weeks |
| Clinical Scope | Detects full spectrum of AFF2 variants: missense, nonsense, splice‑site, CNVs, and methylation abnormalities | Primarily focuses on CGG repeat expansion and methylation at FRAXE site |
| Regulatory Compliance | ISO 9001:2015, DHA/MOHAP licensed, UAE PDPL‑compliant | Variable; dependent on provider accreditation |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
This test provides critical insights into neurodevelopmental disorders, but results must always be interpreted in the context of a comprehensive clinical evaluation. A negative report does not exclude other genetic causes of intellectual disability; positive findings can guide early intervention and family planning. Pre‑ and post‑test genetic counselling is mandatory to ensure informed decision‑making.
Pre‑Test Requirements & Clinical Advisory
Mandatory Pre‑Test Counselling
A mandatory pre‑test genetic counselling session is required to draw a detailed three‑generation pedigree chart, document developmental milestones, and review prior genetic test results. A completed consent form, in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability, must be provided by the patient (or legal guardian for minors). Please fast for at least 4 hours (water permitted) before the blood draw.
Exclusion Criteria & Safety Monitoring
Safety Exclusion Criteria
- Inability to provide informed consent (legal guardian required for minors per UAE regulations).
- Acute psychotic episode impairing decision‑making capacity.
- Untreated coagulopathy posing bleeding risk during venipuncture.
- Active febrile illness – collection deferred until fever resolves.
⚠️ Emergency Red Flags – If you experience new‑onset seizures, sudden loss of consciousness, acute neurological deterioration, suicidal ideation, or suspected non‑accidental injury, seek immediate emergency care. Genetic testing is not a substitute for acute medical intervention.
Patient FAQ & Clinical Guidance
1. What is the AFF2 gene and how does it relate to FRAXE mental retardation?
The AFF2 gene encodes a protein essential for normal neuronal function. Pathogenic variants in AFF2 cause FRAXE intellectual disability and a fragile site on the X chromosome. This gene is critical for brain development; mutations lead to a spectrum of neurodevelopmental disorders ranging from mild intellectual disability to severe cognitive impairment. The NGS test identifies all classes of pathogenic variants.
2. Who should consider this genetic test?
Individuals with unexplained intellectual disability, global developmental delay, a family history of X‑linked mental retardation, or those seeking carrier screening. Testing is recommended for children with developmental delays, adults with cognitive impairment of unknown origin, and at‑risk female relatives to determine carrier status. Pre‑test counselling ensures eligibility.
3. What is the testing process and turnaround time?
A 5 mL blood sample is collected in a PAXgene tube via our VIP Mobile Phlebotomy service at your preferred location (home, office, or hospital). The sample is transported under strict cold‑chain (2–8°C) to our ISO‑certified laboratory. NGS sequencing, bioinformatics analysis, and clinical interpretation require 3–4 weeks. An expedited VIP service is available upon request.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance Framework
This test is performed under the regulatory oversight of the Dubai Health Authority (DHA) and Ministry of Health and Prevention (MOHAP). All patient data are handled in strict compliance with:
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) – UAE’s comprehensive data protection law ensuring consent, purpose limitation, and data security.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governs electronic health records, telemedicine, and digital data sharing.
Results are securely transmitted via encrypted channels and accessible only to the ordering physician and the patient. No third‑party access is permitted without explicit written consent.
Clinical & Logistical Metadata
| Test Name | AFF2 Gene (FRAXE Fragile Site) Mental Retardation, X‑Linked NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (5 mL in PAXgene tube) |
| Methodology Used | Next‑Generation Sequencing (NGS) + CNV analysis + methylation profiling |
| ICD‑10‑CM Code | Q99.8 (Other specified chromosome abnormalities) / F78 (Other intellectual disabilities) |
| LOINC Code | 81326‑5 (AFF2 gene targeted mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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