Test Price
2,800 AED✅ Home Collection Available
SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
This advanced genetic test offers precise diagnosis of Cornelia de Lange syndrome type 2 linked to SMC1A mutations, with 99.9% diagnostic accuracy per ISO-accredited laboratory standards. The service includes VIP mobile phlebotomy home collection via cold-chain logistics, telephonic post-test genetic counseling, and direct insurance billing verification through WhatsApp.
Test Overview & Methodology
The SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test uses next-generation sequencing (NGS) to detect pathogenic variants in the SMC1A gene. It supports personalized management for dermatological, developmental, and multisystem manifestations under UAE DHA guidelines.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) | Sanger Sequencing (single‑gene) |
| Precision | 99.9% Sensitivity, full gene & splice‑site coverage | Up to 95% for targeted exons only |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| Home Collection | Yes, cold‑chain VIP mobile phlebotomy | Often lab visit only |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I emphasize that this test must be correlated with clinical findings, growth parameters, and developmental history. No genetic result alone dictates management. Please continue all prescribed medications and consult your doctor before any changes.” – Lina Osama Zaki Quteineh (DHA: 9294403)
⚠️ Do not discontinue prescribed medication without consulting your doctor.
Safety Exclusion Criteria & Red Flags
- Exclusion: No absolute contraindications; however, patients with severe coagulopathy or acute febrile illness should consult their physician before blood draw.
- Not indicated: Asymptomatic individuals without clinical suspicion or a confirmed family history of SMC1A‑related CdLS.
- Emergency red flags: Seek immediate medical attention if the patient develops feeding difficulties, seizures, or breathing problems.
- Drug/supplement note: No specific drug interference with NGS testing, but clinical history of current medications is required.
Patient FAQ & Clinical Guidance
1. What is the SMC1A gene test and who should consider it?
This DNA test uses next-generation sequencing to detect mutations in the SMC1A gene causing Cornelia de Lange syndrome type 2, indicated for individuals with characteristic facial features, growth retardation, and limb anomalies. The test aids in confirming the diagnosis, guiding management of dermatological, osteological, and immunological aspects, and providing accurate genetic counseling for family planning. It is ordered by a clinical geneticist, pediatrician, or dermatologist.
2. How is the sample collected and what is the turnaround time?
A simple blood draw, dried blood spot on an FTA card, or extracted DNA sample is collected at home by our VIP mobile phlebotomy team, with results delivered in 3–4 weeks. The sample is transported in a validated cold‑chain system directly to our ISO-accredited laboratory. No special fasting or preparation is required for blood collection; for dried blood spots, a trained phlebotomist ensures proper sample quality.
3. Is genetic counseling included in the service?
Yes, a pre-test genetic counseling session is required to draw a pedigree chart and discuss implications, along with post-test telephonic interpretation guidance. This ensures families understand the inheritance pattern, recurrence risks, and the impact of results on health management. The session is conducted by a DHA-licensed genetic counselor before sample collection.
UAE Regulatory & Data Privacy Adherence
This diagnostic service complies 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. All patient data is encrypted, processed within UAE jurisdiction, and accessible only to authorized personnel. Clinical safety and consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | SMC1A Gene Cornelia de Lange Syndrome Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral blood, dried blood spot, or extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 94297-1 |
| DHA Facility License & Address | DHA License 1143 – DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians