Test Price
2,800 AEDโ Home Collection Available
SMC3 Gene (Cornelia de Lange Syndrome Type 3) Genetic Test in UAE โ 2,800 AED
Executive Summary & Core Metrics
This ISO 9001:2015 certified Next-Generation Sequencing (NGS) test delivers 99.9% diagnostic sensitivity for detecting pathogenic variants in the SMC3 gene, the established cause of Cornelia de Lange syndrome type 3. We provide a complete DHAโcompliant package: hospital-grade home collection (8โฏAMโ11โฏPM) with certified cold-chain logistics, rapid 3โ4 week turnaround, and complimentary telephonic post-test clinical guidance by our genetic counsellors. Direct insurance billing verification is available via WhatsApp at +971โฏ54โฏ548โฏ8731.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity โ ISO Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection with Certified Cold-Chain Transport.
- Clinical Guidance: Telephonic Post-Test Interpretation by a DHA-Licensed Professional.
- Insurance: Direct Billing Verification via WhatsApp +971โฏ54โฏ548โฏ8731.
Test Overview & Methodology
The SMC3 NGS test sequences the entire coding region of the SMC3 gene to detect mutations responsible for Cornelia de Lange syndrome type 3, a rare genetic disorder characterized by distinctive facial features, growth retardation, and limb abnormalities. Our method uses Illumina NovaSeq technology with 99.9% sensitivity for single nucleotide variants and copy number variations.
| Feature | Our Test (NGS Full Gene) | Closest Alternative (Sanger Panel) |
|---|---|---|
| Precision | 99.9% sensitivity, detects SNVs & CNVs | ~95% sensitivity, misses structural variants |
| Method | Next-Generation Sequencing (Illumina NovaSeq) | Sanger sequencing of selected exons |
| Speed | 3โ4 Weeks | 4โ6 Weeks |
Physician Insight & Safety Protocols
โAs a DHA-licensed Consultant Medical Geneticist, I emphasize that the SMC3 NGS test provides highly reliable molecular confirmation. However, clinical correlation with a thorough physical examination by a Clinical Geneticist is essential. A negative result does not exclude the diagnosis if clinical suspicion is high, and a positive result should guide personalized management and family counselling. Always review implications with a qualified genetic counsellor.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Advisory
Do not discontinue any prescribed medication or alter your treatment plan without first consulting your treating physician. This genetic test is diagnostic and intended to inform clinical decision-making; it is not prescriptive. Always discuss any changes to your health regimen with your doctor.
Exclusion Criteria & Safety Red Flags
- Individuals under 18 years of age require written guardian consent in accordance with UAE medical liability regulations.
- Patients currently undergoing chemotherapy or having received a blood transfusion within 2 weeks should postpone the blood draw; please discuss with your physician.
- If you experience acute respiratory distress, uncontrolled bleeding, or sudden neurological changes, seek emergency medical care immediately โ do not wait for test results.
Patient FAQ & Clinical Guidance
1. Who should consider the SMC3 Genetic Test?
The test is recommended for individuals with clinical signs of Cornelia de Lange syndrome type 3, such as distinctive craniofacial dysmorphism, prenatal and postnatal growth retardation, upper limb malformations, and developmental delay, when a definitive molecular diagnosis is needed for management and family planning.
2. What does the home collection service include and how is the sample transported?
A DHA-certified phlebotomist visits your home, collects a small blood sample in a special EDTA tube (or a dried blood spot if preferred), and immediately places it in a validated cold-chain container for transport to our ISO-accredited lab, ensuring sample integrity throughout.
3. How long does it take to receive the result and what will it tell me?
Results are reported within 3โ4 weeks and will indicate whether a disease-causing variant was detected in the SMC3 gene; a detailed interpretation letter from our clinical geneticist is included, with a post-result tele-consultation to discuss implications.
UAE Regulatory & Data Privacy Adherence
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ All genetic data processed and stored within UAE borders in full compliance.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ Digital health records and telemedicine services adhere to this framework.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ Patient safety, consent, and medical accountability are governed by this law.
- ISO 9001:2015 Certification โ INT/EGQ/2509DA/3139 โ Quality management system audited and accredited.
Clinical & Logistical Metadata
| Test Name | SMC3 Gene Sequencing (Cornelia de Lange Syndrome Type 3) |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or Dried Blood Spot |
| Methodology Used | Next-Generation Sequencing (NGS) โ Illumina NovaSeq |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 60567-5 |
| DHA Facility License & Laboratory Address | DHA License: 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians