Test Price
2,800 AEDโ Home Collection Available
ORC4 Gene Meier-Gorlin Syndrome Type 2 Genetic Test in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
Test Summary at a Glance
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Next-Generation Sequencing.
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 Counselling for result interpretation and family risk assessment.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
DHA Licensed Facility: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | License No. 1143
Test Overview & Methodology
The ORC4 Gene Genetic Test identifies pathogenic variants in the ORC4 gene associated with Meier-Gorlin syndrome type 2, a rare primordial dwarfism disorder characterized by microtia, patellar aplasia or hypoplasia, and growth retardation. This advanced next-generation sequencing test delivers definitive molecular diagnosis to guide clinical management, genetic counselling, and early intervention. The test covers the entire coding region and splice-site boundaries of the ORC4 gene with high-depth coverage exceeding 100x, ensuring detection of single-nucleotide variants, small insertions, and deletions.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next-Generation Sequencing (full gene coding regions + splice sites) | Targeted single-exon analysis |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Diagnostic Sensitivity | >99.9% for ORC4 coding region variants | ~95% (limited to known hotspots) |
| Sample Required | Whole Blood, Extracted DNA, or One-Drop Blood on FTA Card | Whole Blood only |
| Price (AED) | 2,800 | 3,200โ3,500 |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialist, I emphasize that an ORC4 gene test result must be interpreted alongside detailed clinical phenotyping and a three-generation family pedigree. A positive result confirms the diagnosis of Meier-Gorlin syndrome type 2, while a negative result does not exclude the syndrome if clinical features remain strongly suggestive. Further whole-exome sequencing or chromosomal microarray analysis may be warranted in such cases."
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue or modify any prescribed medication without consulting your supervising physician. This genetic test is a diagnostic aid and does not replace ongoing clinical care or medication management.
Exclusion Criteria & Emergency Red Flags
- Absence of clinical indication for Meier-Gorlin syndrome assessment (e.g., isolated short stature without dysmorphic features, microtia, or patellar anomalies).
- Non-consenting minors โ parental or guardian consent is mandatory per UAE regulatory requirements.
- Insufficient or degraded DNA sample quality that fails internal quality control metrics.
- Emergency Red Flags: If the patient exhibits severe respiratory distress, acute feeding difficulty with failure to thrive, or new-onset seizures, seek immediate emergency medical care. Do not await test results.
Patient FAQ & Clinical Guidance
1. What is the ORC4 gene test and how does it help diagnose Meier-Gorlin syndrome type 2?
The ORC4 gene test sequences your DNA to detect mutations causing Meier-Gorlin syndrome type 2, a rare primordial dwarfism disorder. It examines the entire coding region of the ORC4 gene using next-generation sequencing technology, revealing pathogenic variants linked to short stature, microtia (small ears), and patellar anomalies. A definitive molecular diagnosis enables targeted clinical management, surveillance for associated complications, and accurate genetic counselling for family planning.
2. How should I prepare for the test, and is genetic counselling mandatory?
Pre-test genetic counselling is mandatory for every patient undergoing this test. A certified genetic counsellor or consultant medical geneticist will obtain a detailed three-generation family pedigree, explain the potential outcomes, and secure informed consent. No special fasting or medication changes are required before sample collection. Please bring all prior medical records, growth charts, and any previous genetic test reports to the counselling session.
3. What does a negative result mean if my child has clinical features of Meier-Gorlin syndrome?
A negative result from ORC4 gene sequencing indicates that no pathogenic variants were identified in the coding regions of this specific gene. However, Meier-Gorlin syndrome is genetically heterogeneous, with mutations reported in multiple genes including ORC1, ORC4, ORC6, CDT1, CDC6, and GMNN. If clinical suspicion remains high despite a negative ORC4 result, your physician may recommend a broader approach such as whole-exome sequencing or a multi-gene primordial dwarfism panel to search for causative variants in other genes.
4. What sample types are accepted and how is the collection arranged?
We accept whole blood collected in EDTA tubes, extracted genomic DNA (minimum 500 ng at 20 ng/ยตL concentration), or one-drop blood dried on an FTA card. Our VIP Mobile Phlebotomy service is available from 8 AM to 11 PM daily, with temperature-controlled cold-chain transport directly to our CAP-accredited laboratory. For patients preferring a clinical visit, samples can be collected at our Dubai Healthcare City facility.
5. How long does it take to get results, and how are they delivered?
The standard turnaround time is 3 to 4 weeks from sample receipt. Results are delivered through a secure patient portal and are also discussed during a mandatory post-test genetic counselling session. Your referring physician receives a comprehensive report including variant classification per ACMG guidelines, interpretation, and management recommendations. Urgent results can be expedited on request.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with UAE federal regulations governing medical genetic testing and patient data protection. Our data security and confidentiality measures adhere to 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 clinical testing procedures and patient safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. The facility is licensed by the Dubai Health Authority (DHA License No. 1143), and all processes follow ISO 9001:2015 quality management standards (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ORC4 Gene Sequencing โ Meier-Gorlin Syndrome Type 2 |
| Price (AED) | 2,800 |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or One-Drop Blood on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full gene coding regions and splice-site boundaries |
| ICD-10-CM Code | Q87.1 (Congenital malformation syndromes predominantly associated with short stature) |
| LOINC Code | 82007-5 (ORC4 gene full sequencing) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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