Test Price
2,800 AED✅ Home Collection Available
DDR2 Gene Spondylometaepiphyseal Dysplasia (Short Limb‑Hand Type) Genetic Test in UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing, ensuring precise DDR2 mutation detection.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM) for blood, DNA, or FTA cards.
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation provided by licensed genetic counsellors.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced Next‑Generation Sequencing (NGS) test analyses the entire coding sequence of the DDR2 gene to diagnose Spondylometaepiphyseal Dysplasia, Short Limb‑Hand Type (SMD‑SLH), a rare autosomal recessive skeletal disorder.
| Feature | Our Test (NGS) | Closest Alternative |
|---|---|---|
| Methodology | High‑Throughput NGS + Sanger Confirmation | Sanger Sequencing Only |
| Diagnostic Sensitivity | 99.9% for coding variants | ~95% (may miss deep intronic mutations) |
| Turnaround Time | 3–4 Weeks (expedited options available) | 4–6 Weeks |
Physician Insight & Safety Protocols
“Genetic testing for DDR2 mutations provides a definitive molecular diagnosis for Spondylometaepiphyseal Dysplasia, enabling personalised orthopaedic management and informed family planning. However, results must be interpreted alongside clinical and radiological findings.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory on Genetic Counselling & Result Interpretation
Pre‑Test and Post‑Test Counselling Required
All patients must receive pre‑test genetic counselling to understand the implications of testing. Post‑test results should be reviewed with a certified genetic counsellor or medical geneticist. Do not make clinical decisions solely based on this test result.
Safety Exclusion Criteria & Emergency Red Flags
Exclusion from Home Collection & Testing
- Informed Consent: Patients unable to provide consent (e.g., minors without legal guardian) are excluded per Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Recent Transfusion: Individuals who received a blood transfusion within the past 4 weeks should defer testing to avoid interference with DNA extraction.
Immediate Medical Attention Required
- If you experience sudden severe bone pain, difficulty breathing, acute neurological changes, or any life‑threatening symptom, proceed to the nearest emergency department immediately. This test is not intended for acute care.
Patient FAQ & Clinical Guidance
1. What is the purpose of the DDR2 gene test for Spondylometaepiphyseal Dysplasia?
The test identifies disease‑causing mutations in the DDR2 gene to confirm a clinical diagnosis of Spondylometaepiphyseal Dysplasia, Short Limb‑Hand Type, and supports family planning and personalised management.
2. How is the sample collected and what are the preparation requirements?
A blood sample, extracted DNA, or a single drop of blood on an FTA card is collected via our VIP home service; prior genetic counselling and a detailed pedigree chart are mandatory.
3. What does a positive result mean for my health and my family?
A positive result confirms the genetic cause of skeletal dysplasia, enabling targeted orthopaedic surveillance and informed reproductive risk assessment for family members.
UAE Regulatory & Data Privacy Adherence
This test is performed in 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. All genetic data is handled with strict confidentiality and is not shared without explicit patient consent. ISO 9001:2015 certified quality management ensures data integrity from collection to final report.
Clinical & Logistical Metadata
| Test Name | DDR2 Gene Spondylometaepiphyseal Dysplasia (Short Limb‑Hand Type) Genetic Test |
| Price (AED) | 2800 |
| Turnaround Time | 3–4 Weeks (expedited options available) |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card (Peripheral Blood) |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger Confirmation |
| ICD‑10‑CM Code | Q77.8 |
| LOINC Code | 92730-6 |
| DHA Facility License & Address | License No. 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
For appointments & home collection booking, call or WhatsApp: +971 54 548 8731 — 8 AM – 11 PM daily.
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians