Test Price
2,800 AEDโ Home Collection Available
COL11A2 Gene Otospondylomegaepiphyseal Dysplasia Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited 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.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
DHA-Compliant | ISO 9001:2015 Cert: INT/EGQ/2509DA/3139 | Federal Decree-Law No. 45 of 2021 (PDPL) | Federal Law No. 2 of 2019
Test Overview & Methodology
This advanced genetic test utilizes next-generation sequencing (NGS) to analyze the entire coding region of the COL11A2 gene, diagnosing otospondylomegaepiphyseal dysplasia (OSMED) with unmatched precision. OSMED is a rare collagenopathy causing disproportionate short stature, sensorineural hearing loss, and characteristic skeletal anomalies; early molecular confirmation guides surveillance and family planning.
| Feature | Our COL11A2 NGS Test | Closest Alternative (General Skeletal Dysplasia Panel) |
|---|---|---|
| Precision | 99.9% sensitivity; full gene sequencing + CNV detection | Variable; often limited to known hotspots |
| Methodology | NGS with confirmatory Sanger sequencing if needed | NGS panel; may miss deep intronic or regulatory variants |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks (often longer due to batched processing) |
| Clinical Reporting | Clinically annotated report aligned with ACMG guidelines, reviewed by Genetic Counselor | Research-grade output; may lack clinical interpretation |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics, I emphasize that a precise COL11A2 analysis is pivotal for confirming OSMED and guiding multidisciplinary care. Always correlate genetic findings with comprehensive clinical and radiological evaluation. I recommend post-test counseling to fully understand inheritance patterns and family planning options.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA ID 9294403
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Some treatments may influence genetic analysis; inform your clinician of all current medications.
Patient Safety & Exclusion Criteria
- Exclusion: Inability to provide a venous blood sample or DNA sample; refusal of pre-test genetic counseling.
- Exclusion: Current use of DNA-damaging chemotherapy agents that may confound results; discuss timing with your oncologist.
- Red Flag: New-onset acute hearing loss, extremity pain/swelling, or difficulty breathingโseek emergency care immediately.
- Red Flag: Cervical spine instability symptoms (neck pain, numbness) require urgent orthopedic evaluation, not just genetic testing.
Patient FAQ & Clinical Guidance
1. What does the COL11A2 gene test for Otospondylomegaepiphyseal dysplasia involve?
Snippet: This test sequences the entire COL11A2 gene to identify pathogenic variants confirming the diagnosis of otospondylomegaepiphyseal dysplasia.
A small blood sample or DNA extracted from a buccal swab is sufficient; the sample is processed through NGS and any detected variant is classified according to ACMG guidelines. Clinical correlation is essential, as not all variants guarantee the phenotype.
2. What sample is required and how long do results take?
Snippet: Acceptable samples include whole blood, extracted DNA, or a dried blood spot on FTA card, with results in 3โ4 weeks.
Our courier collects the sample from your home at an 8 AM โ 11 PM slot; the cold-chain preserved specimen undergoes NGS, and a genetic counselor reviews the final report. Preliminary verbal results may be available sooner upon clinician request.
3. Will this test affect my insurance or privacy?
Snippet: Your results are protected under UAE PDPL and Federal Decree-Law No. 45 of 2021, with strict data confidentiality.
We do not share genetic data with employers or insurers without explicit consent. The laboratory holds ISO 9001:2015 certification, and all processing is in compliance with DHA standards. For minors, guardian consent is required per Federal Law No. 2 of 2019.
UAE Regulatory & Data Privacy Adherence
This test is performed 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. Your genetic data is encrypted, access-limited, and never shared without your explicit consent. The laboratory holds DHA Facility License No. 1143 and adheres to strict data governance protocols.
Clinical & Logistical Metadata
| Test Name | COL11A2 Gene Otospondylomegaepiphyseal Dysplasia Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with confirmatory Sanger sequencing if required; CNV detection included |
| ICD-10-CM Code | Q78.8 (Other specified osteochondrodysplasias), Z84.1 (Family history of musculoskeletal disorders), Z13.79 (Encounter for screening for genetic and chromosomal anomalies) |
| LOINC Code | 82939-0 โ COL11A2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method |
| 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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All reports reviewed by DHA-Certified physicians