Test Price
2,800 AED✅ Home Collection Available
SALL1 Gene Townes-Brocks Syndrome Genetic Test in UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Laboratory (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 Genetic Counseling for result interpretation. Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SALL1 Gene NGS Test identifies pathogenic variants in the SALL1 gene, which causes Townes-Brocks syndrome—a rare autosomal dominant disorder characterised by anorectal, renal, ear, and limb anomalies. This high-coverage next-generation sequencing, confirmed by Sanger analysis, ensures precise molecular diagnosis in full adherence to ISO 9001:2015 standards and UAE regulatory frameworks.
| Feature | Our Test (NGS + Sanger) | Closest Alternative (Single-Gene Sanger Only) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for SALL1 variants | Limited to known point mutations, may miss large deletions |
| Methodology | Next-Generation Sequencing + confirmatory Sanger | Sanger sequencing of selected exons |
| Turnaround Time | 14–21 Business Days (3–4 Weeks) | 4–6 Weeks |
Physician Insight & Safety Protocols
“Townes-Brocks syndrome presents a broad clinical spectrum spanning anorectal, renal, and limb anomalies. Comprehensive genetic testing through NGS with Sanger confirmation is essential for accurate diagnosis and family counseling. A negative result does not exclude the diagnosis if clinical suspicion remains high—a multidisciplinary dysmorphology evaluation is strongly recommended. All results should be discussed with a clinical geneticist.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Medication Advisory
Important: Genetic testing results are not a substitute for emergency medical care. Do not alter or discontinue any prescribed medication without consulting your treating physician. If acute symptoms develop—such as renal failure, seizures, or severe respiratory distress—seek immediate emergency department care.
Patient Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to provide informed consent (or absence of a legal guardian for minors), active life-threatening condition requiring immediate intervention, or a confirmed diagnosis from another accredited laboratory within the last 90 days (repeat confirmatory testing may be permitted after clinical review).
- Emergency Red Flags: Acute renal failure, sudden seizures, severe abdominal distention due to imperforate anus, or any sign of respiratory distress prior to sample collection—proceed immediately to the nearest emergency department. Genetic testing is not urgent in these scenarios.
Patient FAQ & Clinical Guidance
1. What does the SALL1 gene test detect?
This NGS assay sequences the entire SALL1 gene to identify pathogenic variants that cause Townes-Brocks syndrome, a multisystem congenital anomaly disorder affecting the anus, kidneys, ears, and limbs. The test includes confirmatory Sanger sequencing for all detected variants.
2. How long do results take and what sample is needed?
Final results are delivered within 14–21 business days (3–4 weeks) from laboratory receipt of a peripheral whole blood sample collected in an EDTA tube. Extracted DNA of adequate quality may also be accepted after prior approval from the molecular genetics laboratory.
3. Is home sample collection available and safe for genetic testing?
Yes, our VIP Mobile Phlebotomy service operates daily from 8 AM to 11 PM. Samples are transported via ISO-certified temperature-controlled cold-chain logistics to ensure specimen integrity. A trained phlebotomist will collect the blood sample at your residence under hospital-grade protocols.
4. Will my insurance cover this genetic test?
DNA Labs UAE offers direct billing verification through WhatsApp at +971 54 548 8731. Coverage varies by insurance provider and plan. Contact us prior to testing to confirm your eligibility and any pre-authorization requirements.
UAE Regulatory & Data Privacy Adherence
This test is performed 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. Clinical testing safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. All patient data is encrypted and stored in secure servers within the UAE. Our facility holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and is licensed by the Dubai Health Authority.
Clinical & Logistical Metadata
| Test Name | SALL1 Gene Townes-Brocks Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 14–21 Business Days (3–4 Weeks) |
| Sample Type / Matrix | Whole Blood (EDTA) or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) + Sanger Confirmation |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 92104-8 |
| DHA Facility License & Laboratory Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License No. 1143 |
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