Test Price
2,800 AED✅ Home Collection Available
SMARCE1 Gene Genetic Test for Coffin-Siris Syndrome in UAE – 2800 AED – DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing.
- 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 Guidance in result interpretation with a DHA-licensed physician.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This test uses next-generation sequencing (NGS) to analyze the entire coding region and exon-intron boundaries of the SMARCE1 gene. It detects pathogenic point variants, small insertions/deletions, and copy number variations (CNVs) associated with Coffin-Siris syndrome (CSS) and hereditary predisposition to clear cell meningiomas. Early molecular diagnosis enables multidisciplinary management, targeted surveillance, and informed family planning.
| Feature | Our Test (UAE – Precision NGS) | Conventional Single‑Gene Sanger Sequencing |
|---|---|---|
| Methodology | Full‑coding NGS with CNV detection capability | Exon‑by‑exon Sanger; limited to small mutations |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks (often outsourced) |
| Diagnostic Yield for Coffin‑Siris | >95% for SMARCE1 point variants and exonic deletions | ~80% (may miss large rearrangements) |
| Regulatory & Accreditation | ISO 9001:2015 & DHA‑licensed facility | Variable; often lacks local UAE accreditation |
Physician Insight & Safety Protocols
“I have witnessed how a timely genetic diagnosis of Coffin‑Siris syndrome can transform a family’s journey from uncertainty to targeted care. This test provides molecular clarity, but all results must be correlated with the patient’s full clinical picture by a pediatrician or clinical geneticist. Never act on a genetic report in isolation.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403).
Safety & Preparation Advisory
Do not discontinue any prescribed medication, especially anti‑epileptics or hormonal therapies, without consulting your treating physician prior to sample collection. Genetic test results inform long‑term management and do not warrant immediate drug changes. If you are on anticoagulants, inform the phlebotomist; a gentle draw is performed if clinically safe.
Patient Exclusion Criteria & Emergency Red Flags
- Active severe bleeding disorder that precludes safe venipuncture – home collection will be rescheduled after medical clearance.
- Inability to provide informed consent (parent/guardian for minors mandatory per UAE regulations).
- Acute life‑threatening illness at the time of sample collection – prioritize emergency care.
- ER Red Flags: If the patient experiences rapid neurological deterioration, uncontrolled seizures, or signs of raised intracranial pressure, seek emergency medical attention immediately.
Patient FAQ & Clinical Guidance
1. What is the diagnostic value of the SMARCE1 NGS test for Coffin‑Siris syndrome?
This test provides a definitive molecular diagnosis by identifying disease‑causing variants in the SMARCE1 gene with >99.9% sensitivity, enabling accurate clinical classification and targeted multidisciplinary care planning for affected children and adults.
2. How does home collection for this genetic test preserve sample integrity?
Our ISO‑certified cold‑chain logistics and FTA card technology stabilize DNA immediately upon collection, ensuring that even a single drop of blood maintains full genomic integrity during transport to our Dubai laboratory.
3. What is the turnaround time for results?
Results are available within 3–4 weeks from sample receipt. You will receive a secure digital report with clinical interpretation and raw variant data upon request.
4. Is pre‑test genetic counseling provided?
Yes, every patient or guardian receives a telephonic pre‑test consultation with our DHA‑licensed genetic counselor to discuss expected outcomes, inheritance patterns, and implications for family members.
UAE Regulatory & Data Privacy Adherence
This test is performed under the regulatory framework of the Dubai Health Authority (DHA) and 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 genetic data is encrypted, access-controlled, and processed only with explicit informed consent. Clinical safety and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | SMARCE1 Gene Sequencing – Coffin-Siris Syndrome & Meningioma Predisposition |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (FTA card or EDTA tube) – VIP Mobile Phlebotomy home collection available daily 8 AM–11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) – full-gene analysis with CNV detection |
| ICD-10-CM Code | Q87.1, Q85.8 (if associated with meningioma) |
| LOINC Code | 92709-6 |
| DHA Facility License & Lab Address | License No: 1143 Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Corporate Lab: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians