Test Price
2,800 AED✅ Home Collection Available
SALL4 Gene Analysis for Duane Retraction Syndrome – Genetic Test in UAE
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited next‑generation sequencing.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM.
- ✓ Clinical Guidance: Telephonic post‑test result interpretation by a qualified genetic counsellor.
- ✓ Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next‑generation sequencing (NGS) test analyses the complete coding sequence and flanking intronic regions of the SALL4 gene to identify pathogenic variants responsible for Duane retraction syndrome and the broader Okihiro spectrum. It is the definitive molecular diagnostic tool for confirming hereditary eye movement disorders and guiding multidisciplinary care including surgical planning and genetic counselling.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Technology | Next‑Generation Sequencing (targeted panel) | Sanger Sequencing (single gene) |
| Sensitivity for SNVs/Indels | 99.9% | ~95% |
| Copy Number Variation Detection | Detected (MLPA complement) | Not available |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| International Accreditation | ISO 9001:2015 & DHA Licensed | May lack ISO certification |
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I see families seeking clarity on hereditary eye movement disorders. This SALL4 gene analysis provides a definitive molecular answer, enabling precise genetic counselling and informed reproductive planning. Remember that genomic results must always be interpreted within the full clinical and family context.”
– Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Important Advisory
Clinical Note
Do not discontinue any prescribed medication or therapy without prior consultation with your treating physician. Genetic test results provide risk assessment and diagnostic confirmation, not independent therapeutic directives.
Exclusion Criteria & Safety Red Flags
- • Exclusion Criteria: Active febrile illness, acute eye infection, or inability to provide informed consent. Minors must have legal guardian consent per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- • Emergency Red Flags: If you experience sudden vision loss, severe eye pain, or acute neurological symptoms, seek emergency medical attention immediately — these are unrelated to routine genetic testing.
- • A mandatory pre‑test genetic counselling session is required to draw a pedigree chart of affected family members.
Patient FAQ & Clinical Guidance
1. What is the SALL4 gene and how does it relate to Duane retraction syndrome?
The SALL4 gene encodes a transcription factor critical for embryonic development of the eyes and limbs. Pathogenic variants in SALL4 cause Duane retraction syndrome (DRS), a congenital cranial dysinnervation disorder where the lateral rectus muscle fails to develop properly. About 20% of familial DRS cases are linked to heterozygous SALL4 mutations, which also underlie Okihiro syndrome (Duane‑radial ray syndrome). This NGS test screens all exons and flanking intronic regions to detect single‑nucleotide variants, small deletions/insertions, and — with complementary MLPA — copy number changes.
2. How should I prepare for the SALL4 gene test?
No fasting is required. A small blood sample (3–5 mL in an EDTA tube) or a dried blood spot on an FTA card is sufficient. If you have previously extracted DNA stored in a reputable biobank, that can also be used. Our laboratory provides a cold‑chain VIP Mobile Phlebotomy service at your home between 8 AM and 11 PM. Please inform the team of any bleeding disorders or anticoagulant medication. A pre‑test genetic counselling session is compulsory to understand inheritance patterns and to construct a detailed pedigree, as required by UAE law.
3. Will my genetic data be kept confidential under UAE law?
Absolutely. All genomic data is encrypted and processed in strict compliance with 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. Genetic information is de‑identified and shared only with your referring physician. Results are never disclosed to third parties without your explicit written consent. For minors, the legal guardian must provide informed consent in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to the highest standards of data protection and clinical safety. All genetic testing procedures comply with 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. Patient consent and clinical safety are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory holds ISO 9001:2015 certification, ensuring rigorous quality management across every stage of the testing process.
Clinical & Logistical Metadata
| Test Name | SALL4 Gene Analysis for Duane Retraction Syndrome (Genetic Test) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) or Dried Blood Spot (FTA card) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection Available Daily 8 AM – 11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) with MLPA complement for copy number variant detection |
| ICD-10-CM Code | Z13.71, H50.813, Q87.0 |
| LOINC Code | 21705-3 |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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