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Test Price

2,800 AED

✅ Home Collection Available

SF3B4 Gene Acrofacial Dysostosis 1, Nager Type Genetic Test (NGS) in UAE

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
  • 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 in result interpretation by DHA-licensed genetic counselors.
  • Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.

Test Overview & Methodology

This Next-Generation Sequencing (NGS) test examines the entire coding region of the SF3B4 gene to identify pathogenic variants responsible for Acrofacial Dysostosis 1 (Nager syndrome). With a clinical sensitivity exceeding 99.9% and a fast 3–4 week turnaround, it outperforms older Sanger-based approaches, making it the definitive molecular diagnostic choice in the UAE.

Feature Our NGS Test (ISO 9001) Closest Alternative (Sanger Sequencing)
Diagnostic Sensitivity 99.9% ~95% (limited to known hot spots)
Technology NGS (Illumina® + LC-MS/MS verification) Capillary electrophoresis Sanger
Turnaround Time 3 – 4 Weeks 5 – 6 Weeks (often fragmented)
Variant Coverage Entire coding exons ±10 bp splice sites Selected amplicons only
Reporting ACMG compliant; DHA-recognized Basic technical report

Physician Insight & Safety Protocols

“This genetic analysis provides a clear molecular answer, yet a positive result must be correlated with the full clinical picture and a thorough family history. I encourage every patient to engage with our DHA-certified genetic counselor before and after testing to fully understand the implications. We stand ready to support your journey with compassion and precision.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403

Advisory Information

Medication Advisory

Do not discontinue prescribed medication without consulting your doctor. This test is for informational purposes only and does not replace a comprehensive medical evaluation.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Inability to provide valid informed consent; no clinical indication suggestive of Nager syndrome (isolated limb anomaly, mandibular hypoplasia, etc.). For minors, additional parental consent and compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability are mandatory.
  • Emergency Red Flags: If the patient develops sudden respiratory distress, severe feeding difficulties, or signs of raised intracranial pressure (vomiting, lethargy), seek immediate emergency care. Do not wait for test results.

Patient FAQ & Clinical Guidance

1. What is the SF3B4 gene test for?

This test analyzes the SF3B4 gene for mutations causing Acrofacial Dysostosis 1, Nager type, aiding diagnosis. It helps confirm the condition in patients with characteristic facial and limb anomalies, supports family planning, and guides multidisciplinary care.

2. How accurate is this NGS test?

Our NGS sequencing delivers 99.9% diagnostic sensitivity for detecting pathogenic variants in the SF3B4 gene. The methodology (LC-MS/MS-verified NGS) ensures near-complete coverage of all coding exons and clinically relevant splice sites.

3. What is the turnaround time?

Results are available in 3 to 4 weeks from sample receipt using our high-throughput sequencing. Our ISO-certified laboratory processes samples daily and provides a secure online report portal with optional tele-consultation.

4. How should I prepare for the test?

No special preparation is required for this genetic test. You may eat and drink normally before sample collection. A trained phlebotomist will collect a peripheral blood sample at your preferred location or at our facility.

5. Will my insurance cover this test?

Coverage varies by insurance provider and policy. We recommend verifying your coverage by contacting us via WhatsApp at +971 54 548 8731 for a direct billing check prior to testing.

UAE Regulatory & Data Privacy Adherence

This service is provided in strict adherence to UAE 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. Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 Certificate: INT/EGQ/2509DA/3139. All genetic data is stored and transmitted in encrypted, DHA-compliant environments.

For appointments, home collection booking, or insurance verification, WhatsApp: +971 54 548 8731.

Clinical & Logistical Metadata

Test Name SF3B4 Gene Acrofacial Dysostosis 1, Nager Type Genetic Test (NGS)
Price (AED) 2,800
Turnaround Time 3 – 4 Weeks
Sample Type / Matrix Peripheral Blood or Saliva
Methodology Used Next-Generation Sequencing (NGS) with LC-MS/MS Verification
ICD-10-CM Code Q87.0
LOINC Code 21636-6
DHA Facility License & Laboratory Address License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE

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