Test Price
2,800 AED✅ Home Collection Available
SMARCAL1 Gene Schimke Immuno‑Osseous Dysplasia Genetic Test (NGS) in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) 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 DHA-licensed genetic counsellor.
Insurance Verification: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SMARCAL1 gene test detects pathogenic variants causing Schimke immuno-osseous dysplasia (SIOD), a rare autosomal recessive disorder characterized by skeletal dysplasia, nephrotic syndrome, and T-cell immunodeficiency. This NGS-based assay provides comprehensive coverage of coding regions and splice sites, delivering results within 3-4 weeks for 2800 AED.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Single‑Gene) |
|---|---|---|
| Methodology | NGS with copy-number variant analysis & confirmation | Bidirectional Sanger sequencing of coding exons only |
| Diagnostic Sensitivity | 99.9% for SNVs, indels, and large deletions/duplications | ~95% (may miss deep intronic or copy-number changes) |
| Turnaround Time | 3-4 Weeks | 4-6 Weeks |
| Price (UAE) | 2800 AED | 1800-2200 AED (often limited coverage) |
Physician Insight & Safety Protocols
“Schimke immuno-osseous dysplasia is a multi-system condition where timely genetic diagnosis enables proactive renal and immunological surveillance. This NGS test provides the molecular clarity needed for family planning and early intervention. Always correlate results with clinical findings.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory Notice & Medication Safety
This test requires only a blood sample, FTA card, or extracted DNA; no fasting or medication change is needed. Do not discontinue prescribed medication without consulting your doctor. All clinical procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability to ensure patient safety and informed consent.
Exclusion Criteria for Home Collection
Home collection is contraindicated if the patient is currently febrile (>38.5°C), has acute respiratory distress, or uncontrolled bleeding. In such cases, collection should be deferred or performed in a clinical setting. Seek immediate medical attention for sudden onset of severe headache, visual disturbances, or chest pain after sample collection.
Patient FAQ & Clinical Guidance
1. What does the SMARCAL1 gene detect and why is it ordered?
This high-precision NGS assay identifies pathogenic variants in the SMARCAL1 gene, confirming a diagnosis of Schimke immuno-osseous dysplasia in individuals with short stature, nephrotic syndrome, and recurrent infections.
2. How is the sample collected and is the home service safe?
A DHA-licensed phlebotomist collects a small blood volume (or cheek swab/FTA card) under strict cold-chain transport using VIP Mobile Phlebotomy between 8 AM and 11 PM, ensuring full sample integrity and compliance with UAE health regulations.
3. Are insurance plans accepted and how can I verify coverage?
We accept most UAE medical insurance providers; direct billing verification is available via WhatsApp at +971 54 548 8731, with confirmation typically within 2 working hours.
UAE Regulatory & Data Privacy Adherence
Data Protection & Confidentiality: Your genetic data is processed in full 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. All test results and personal information are encrypted, access-restricted, and never shared without explicit patient consent.
Clinical Governance: This molecular diagnostic service operates under DHA Facility License Number 1143 and adheres to UAE standards for genetic testing, including mandatory pre- and post-test counselling protocols.
Clinical & Logistical Metadata
| Test Name | SMARCAL1 Gene Schimke Immuno‑Osseous Dysplasia Genetic Test (NGS) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Blood, FTA Card, or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with Copy-Number Variant Analysis |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | License No. 1143 – 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