Test Price
2,800 AED✅ Home Collection Available
COL10A1 Gene Metaphyseal Chondrodysplasia, Schmid Type Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
99.9% Diagnostic Sensitivity | ISO 9001:2015 Certified
Premium logistics include VIP mobile phlebotomy and temperature‑controlled cold‑chain home collection available daily from 8 AM to 11 PM. Post‑test clinical guidance by telephone included. Direct insurance billing verification via WhatsApp.
Key Metrics
Price: 2,800 AED | Turnaround: 3–4 Weeks | Sample: Peripheral Whole Blood | Method: Next‑Generation Sequencing (NGS)
Test Overview & Methodology
The COL10A1 next‑generation sequencing (NGS) test identifies pathogenic variants in the COL10A1 gene causing metaphyseal chondrodysplasia Schmid type – a rare autosomal dominant skeletal dysplasia. This test provides definitive molecular diagnosis, aiding clinical management, family screening, and reproductive planning.
| Feature | Our Test (NGS Panel) | Closest Alternative (WES) |
|---|---|---|
| Precision | Targeted COL10A1 full gene coverage >99% | Variable depth; may miss deep intronic variants |
| Method | Next‑Generation Sequencing (NGS) – targeted | Whole Exome Sequencing – broader, less focused |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I have seen how a molecular confirmation of Schmid metaphyseal chondrodysplasia empowers families with clear prognosis and recurrence risk. This targeted NGS test offers high sensitivity for COL10A1 variants, but results must always be correlated with radiographic and clinical findings. Our genetic counselling team is available to discuss implications for the patient and extended family.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory – Medication & Treatment Precautions
Please do not alter or discontinue any prescribed medications, supplements, or growth hormone therapies without prior consultation with your treating physician. Sudden changes may affect bone health or mask underlying conditions.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Asymptomatic individuals without clinical or radiological suspicion; minors without documented parental/guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Red Flags (seek immediate medical care): Sudden worsening of bone pain or deformity; new-onset limb weakness or sensory loss; failure to thrive or growth velocity below the 3rd percentile.
- Sample Rejection: Hemolyzed, clotted, or improperly transported specimens (cold‑chain breach).
Patient FAQ & Clinical Guidance
1. What is the COL10A1 gene test for metaphyseal chondrodysplasia Schmid type?
This targeted NGS test analyzes the entire COL10A1 gene to detect pathogenic variants responsible for Schmid metaphyseal chondrodysplasia, a rare inherited skeletal disorder. The test provides a definitive molecular diagnosis that helps guide clinical management and family planning.
2. How is the test performed and what sample is needed?
A simple venous blood draw (2–5 ml in an EDTA tube) is collected during a hospital‑grade home visit under VIP mobile phlebotomy. The specimen is transported via temperature‑controlled cold‑chain courier to our ISO‑certified laboratory. Alternatively, an extracted DNA or dried blood spot can be accepted.
3. What do the results mean and how long until I get them?
Results are delivered within 3–4 weeks. A positive report confirms the diagnosis of Schmid metaphyseal chondrodysplasia. A negative result significantly reduces the likelihood but does not completely exclude the condition, especially if clinical suspicion is high. Variants of uncertain significance are interpreted by our genetic team and discussed during a post‑test counselling session.
UAE Regulatory & Data Privacy Adherence
Data Protection & Compliance
This test is conducted 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. Patient safety and consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted and accessible only to authorised medical personnel.
Clinical & Logistical Metadata
| Test Name | COL10A1 Gene Sequencing (Metaphyseal Chondrodysplasia, Schmid Type) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection |
| Methodology Used | Next‑Generation Sequencing (NGS) – Targeted Gene Panel |
| ICD-10-CM Code | Q78.5, Z13.79, Z15.89 |
| LOINC Code | 101651-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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