Test Price
2,800 AED✅ Home Collection Available
SETBP1 Gene Schinzel‑Giedion Midface Retraction Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO‑accredited NGS processing (cert. INT/EGQ/2509DA/3139).
- 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 discussion with result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SETBP1 Genetic Test is a definitive diagnostic tool for Schinzel‑Giedion syndrome (midface retraction syndrome), a severe developmental disorder caused by mutations in the SETBP1 gene. This targeted next‑generation sequencing (NGS) assay provides full‑gene coverage including deep intronic regions and copy number variation (CNV) detection.
| Feature | Our Test – SETBP1 NGS | Closest Alternative – WES |
|---|---|---|
| Precision | Full‑gene coverage incl. deep intronic regions & CNV detection | Exonic capture; may miss regulatory/intronic variants |
| Methodology | Next‑Generation Sequencing (NGS) – ISO 9001:2015 lab | Whole Exome Sequencing (NGS‑based) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Clinical Report | ICD‑10 & LOINC‑coded; carrier/risk‑categorized | Generic variant list only |
Physician Insight & Safety Protocols
“The SETBP1 NGS assay is the gold standard for diagnosing Schinzel‑Giedion syndrome. As a consultant geneticist, I emphasize that results should be correlated with clinical findings and family pedigree. Pre‑test genetic counselling is essential to ensure informed decision‑making.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Advisory: Medication Continuation
Do not discontinue any prescribed medication or therapy without consulting your managing physician. Genetic test results should never prompt abrupt changes to treatment regimens.
Safety Exclusion Criteria
- Uncontrolled bleeding disorder or use of anticoagulants that contraindicate venipuncture.
- Active systemic infection (fever >38.5 °C) – reschedule after resolution.
- Inability to provide informed consent – guardian consent mandatory for minors; see Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Age < 2 years without written clearance from a paediatric geneticist.
Emergency Red Flags During/After Collection:
- Sudden respiratory distress or cyanosis.
- Seizure activity or loss of consciousness.
- Signs of severe anaphylaxis (swelling, stridor).
In any such event, call 998 immediately.
Patient FAQ & Clinical Guidance
1. How does the SETBP1 NGS test confirm Schinzel‑Giedion syndrome?
The SETBP1 NGS test detects pathogenic mutations across the entire coding sequence, including deep intronic areas and copy number variations, confirming Schinzel‑Giedion syndrome with over 99.9% diagnostic sensitivity.
2. What sample types are accepted for this test?
Whole blood, extracted DNA, or dried blood spot (FTA card) are all acceptable. Whole blood provides fresh genomic material, extracted DNA offers pre‑purified readiness, and an FTA card requires only a single drop of blood. All yield identical analytical performance under our ISO‑accredited protocol.
3. Why is genetic counselling required before the test?
Pre‑test genetic counselling draws a pedigree chart and ensures you fully understand the implications of results. It is mandatory under UAE Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Decree‑Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
Our laboratory is licensed by the Dubai Health Authority (DHA Facility License No. 1143) and adheres to 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. All patient data is encrypted, stored securely, and handled with strict confidentiality. DNA Labs UAE is ISO 9001:2015 certified, ensuring the highest standards of quality and data integrity.
Clinical & Logistical Metadata
| Test Name | SETBP1 Gene Sequencing (Schinzel‑Giedion Midface Retraction Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) – full‑gene coverage incl. deep intronic regions & CNV detection |
| ICD‑10‑CM Code | Q87.0 |
| LOINC Code | 81247-9 |
| 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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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians