Test Price
2,800 AED✅ Home Collection Available
CHRNG Gene Pterygium Syndrome Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
CHRNG Gene Sequencing – Multiple Pterygium Syndrome Diagnosis
This advanced genetic test utilizes Next Generation Sequencing (NGS) to analyze the CHRNG gene for pathogenic variants causing multiple pterygium syndrome, a rare congenital disorder characterized by skin webbing and joint contractures. The test achieves a diagnostic sensitivity of 99.9% and is conducted under the supervision of Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA ID: 9294403). Results are delivered within 3–4 weeks with a complimentary post-test telephonic consultation for result interpretation and family planning guidance. VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM for standard blood specimens.
Price: 2,800 AED | Methodology: Next Generation Sequencing (NGS) | Turnaround: 3–4 Weeks
Test Overview & Methodology
CHRNG gene sequencing identifies pathogenic variants causing multiple pterygium syndrome, a rare congenital disorder characterized by skin webbing, joint contractures, and potentially fatal outcomes. This comprehensive NGS test provides definitive diagnosis, enabling targeted management and family planning. The assay covers the full coding region and splice sites of the CHRNG gene, ensuring high sensitivity for both common and rare mutations.
Our proprietary bioinformatics pipeline aligns sequencing reads against the GRCh38 reference genome and applies stringent quality filters to detect single nucleotide variants, small insertions/deletions, and copy number changes. All clinically significant findings are confirmed by Sanger sequencing prior to report generation.
| Feature | Our CHRNG NGS Test | Sanger Sequencing Alternative |
|---|---|---|
| Technology | Next Generation Sequencing (NGS) | Sanger sequencing (single‑gene) |
| Diagnostic Sensitivity | 99.9% | ~95% |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Coverage | Full coding region + splice sites | Selected exons / hotspots |
| Sample Requirements | Blood, FTA card, or extracted DNA | Blood only |
| Price (UAE) | 2,800 AED | 3,500 AED |
Physician Insight & Safety Protocols
"Interpreting a CHRNG variant requires careful correlation with clinical phenotype and family pedigree. A positive result must be contextualized within the full spectrum of congenital anomalies to guide surgical, rehabilitative, and reproductive decisions. I recommend all patients undergo pre- and post-test genetic counselling to fully understand the implications of their results."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication and Clinical Management
Do not discontinue or alter any prescribed medication without consulting your treating physician. Genetic test results are one component of your overall clinical picture and should never be used as the sole basis for therapeutic changes.
Exclusion Criteria & Emergency Red Flags
Patient Safety: Exclusion Criteria & ER Red Flags
- Exclusion Criteria: Known hemorrhagic disorder (e.g., haemophilia, severe thrombocytopenia) that contraindicates venipuncture; inability to provide informed consent (minors without legal guardian); active febrile illness or infection at the phlebotomy site.
- ER Red Flags: Excessive bleeding or large haematoma formation after sample collection; signs of infection (progressive redness, warmth, pus, fever > 38.5°C); sudden respiratory distress or severe muscle rigidity in a suspected lethal pterygium syndrome – seek emergency medical care immediately.
Patient FAQ & Clinical Guidance
1. What does the CHRNG gene test detect and who needs it?
This NGS test screens the CHRNG gene for mutations causing multiple pterygium syndrome, a rare inherited disorder marked by skin webs and joint contractures. It is indicated for individuals with suggestive clinical features (pterygia, arthrogryposis, facial dysmorphism), a positive family history, or for carrier testing in at‑risk relatives. A dedicated clinical geneticist will interpret the results to guide surgical planning, physiotherapy, and recurrence risk counselling.
2. How should I prepare for the test and what sample is required?
You need to provide a blood sample (whole blood, FTA card, or extracted DNA) after a genetic counselling session to draw a family pedigree. No fasting is required. Our VIP Mobile Phlebotomy team collects the sample at your home using hospital‑grade temperature-controlled cold-chain transport, available daily from 8 AM to 11 PM. Pre‑test genetic counselling is mandatory: we will map your family history and confirm that you understand the implications and limitations of the test.
3. When will I get my results, and can I speak to a specialist for interpretation?
Your final clinical report is ready within 3–4 weeks, and a complimentary post-test telephonic consultation with a genetic specialist is provided. The report follows DHA/MOHAP standards and includes ICD‑10 annotation and LOINC coding. You can schedule your result discussion via WhatsApp at +971 54 548 8731, where our Consultant Medical Genetics will explain the findings, address your concerns, and recommend next steps including family screening and specialist referrals.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Health Information Governance
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres fully 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 genetic data is encrypted at rest and in transit, with strict access controls and audit logging to safeguard patient confidentiality.
Clinical testing safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring that every test is performed with informed consent and under the highest standards of medical accountability.
For direct support, insurance verification, or to schedule your home collection, contact us via +971 54 548 8731 (WhatsApp) or +971 54 548 8731 (Support).
Clinical & Logistical Metadata
| Test Name | CHRNG Gene Pterygium Syndrome Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood, FTA Card, or Extracted DNA |
| Methodology Used | Next Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.89, Q79.8 |
| LOINC Code | 86214-6 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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