Test Price
2,800 AED✅ Home Collection Available
COL11A2 Gene Fibrochondrogenesis Type 2 Genetic Test in UAE
Executive Summary & Core Metrics
Comprehensive Next‑Generation Sequencing for Fibrochondrogenesis Type 2
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified NGS processing with CNV analysis.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM.
- Clinical Guidance: Post‑test telephonic counselling by a board‑certified medical geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted Next‑Generation Sequencing (NGS) test simultaneously screens all coding regions of the COL11A2 gene for pathogenic variants linked to Fibrochondrogenesis Type 2 – a lethal autosomal recessive skeletal dysplasia. The assay detects single‑nucleotide variants, insertions/deletions, and copy‑number variants with 99.9% sensitivity, enabling precise prenatal diagnosis, carrier screening, and familial risk counselling.
| Feature | Our Test – COL11A2 NGS | Alternative – Traditional Sanger Sequencing |
|---|---|---|
| Precision | 99.9% sensitivity, detects SNVs, indels & CNVs | Limited to known targeted variants |
| Methodology | Illumina NGS + CNV analysis | Sanger sequencing (single amplicons) |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Sample Types | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Whole Blood only |
| Price | 2,800 AED | ~3,500 AED |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that Fibrochondrogenesis Type 2 is a severe autosomal recessive skeletal dysplasia. The COL11A2 NGS test provides definitive molecular diagnosis and is essential for carrier screening and prenatal counselling. A positive result warrants immediate multidisciplinary pediatric and genetic follow‑up. Always correlate NGS findings with a detailed clinical phenotype and family pedigree.”
– Lina Osama Zaki Quteineh, DHA Registration ID: 9294403
Medication & Clinical Advisory
⚠ Important Notice
Do not discontinue any prescribed medication without consulting your physician. This genetic test does not replace ongoing clinical management. If you develop excessive bleeding, swelling, or signs of infection at the collection site, seek immediate medical attention.
Exclusion Criteria & Safety Red Flags
- Recent blood transfusion (within 2 weeks) – may affect DNA purity.
- Active systemic infection or severe immunosuppression – postpone home collection.
- Known hemoglobinopathy that could interfere with sample quality – inform phlebotomist.
- Emergency Red Flag: If you develop excessive bleeding, swelling, or signs of infection at the collection site, seek immediate medical attention.
Patient FAQ & Clinical Guidance
1. What is the purpose of the COL11A2 NGS test for fibrochondrogenesis?
This NGS test analyzes the COL11A2 gene for pathogenic mutations causing fibrochondrogenesis type 2, a fatal skeletal dysplasia. It aids prenatal diagnosis, carrier screening, and familial risk assessment with 99.9% sensitivity.
2. How is the sample collected and what options are available?
A simple blood draw, extracted DNA, or a drop of blood on an FTA card is collected via our ISO‑certified VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection service, available daily from 8 AM to 11 PM.
3. How long do results take and how are they interpreted?
Results are delivered in 3–4 weeks. A board‑certified medical geneticist will explain the findings, implications for family planning, and recommend further clinical evaluation if a mutation is identified.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Security: This test fully 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, stored securely, and accessible only to authorised clinical personnel.
Clinical Safety: Patient consent and safety protocols are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. Our laboratory holds ISO 9001:2015 certification (Cert. No. INT/EGQ/2509DA/3139) and is licenced by the Dubai Health Authority (DHA Licence 1143).
Clinical & Logistical Metadata
| Test Name | COL11A2 Gene – Fibrochondrogenesis Type 2 NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with CNV analysis |
| ICD‑10‑CM Code | Q77.5 – Other osteochondrodysplasia |
| LOINC Code | 21698-3 – Genetic analysis |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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