Test Price
2,800 AED✅ Home Collection Available
NPR2 Gene Acromesomelic Dysplasia, Maroteaux Type Genetic Test (NGS) in UAE | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 certified processing (Cert: INT/EGQ/2509DA/3139).
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 by DHA-licensed genetics specialists.
Insurance: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) based genetic test comprehensively sequences the entire NPR2 gene to identify pathogenic variants responsible for Acromesomelic dysplasia, Maroteaux type—a rare autosomal recessive skeletal disorder characterised by severe limb shortening and spinal abnormalities. The test enables early molecular diagnosis, precise genetic counselling, and informed clinical management for affected families.
| Feature | Our Test (ISO Lab) | Closest Alternative |
|---|---|---|
| Precision | 99.9% analytical sensitivity via NGS with full gene coverage | Targeted mutation panels may miss novel or rare variants |
| Method | Next-Generation Sequencing (Illumina® platform), validated with Sanger confirmation | Sanger sequencing of selected exons (limited scope) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks for comparable coverage |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I recognise the profound concern families experience when a child’s growth deviates from the norm. This advanced genetic test provides definitive molecular insights, but the results must always be interpreted within the context of a thorough clinical evaluation and extended pedigree analysis. Please rely on your consulting specialist to integrate these findings into a holistic care plan.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Important Advisory
⚠️ Do not discontinue any prescribed medication or alter your child’s treatment without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria & Emergency Red Flags
- This test is not appropriate for asymptomatic individuals without clinical suspicion; it is indicated only after a paediatric or genetic specialist evaluation.
- If your child develops acute respiratory distress, cyanosis, severe feeding intolerance, or sudden worsening of skeletal deformities, seek immediate emergency care regardless of test status.
- Testing of minors requires informed consent per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient FAQ & Clinical Guidance
1. What is the NPR2 Gene Acromesomelic Dysplasia test and why is it done?
This NGS test detects NPR2 pathogenic variants responsible for Acromesomelic dysplasia Maroteaux type, aiding clinical management. It is used to confirm the diagnosis in children with disproportionate short stature and limb anomalies, enabling early intervention and precise genetic counselling for families. Results guide orthopaedic and endocrine follow-up.
2. How is the sample collected and what are the pre-test requirements?
A blood sample is collected following a mandatory genetic counselling session and family pedigree chart review. The sample (whole blood or FTA card) is obtained via our VIP mobile phlebotomy home collection service. You must provide a detailed clinical history and participate in a pre-test counselling call to ensure proper test selection and informed consent.
3. What do the results mean and how long do they take?
Results show whether NPR2 mutations are present and are clinically interpreted within 3 to 4 weeks. A positive result confirms the molecular diagnosis and enables carrier testing in relatives. A negative result may still warrant further evaluation for other skeletal dysplasias. Post-test telephonic guidance with a geneticist is included.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: This service is fully compliant 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. Clinical safety and patient consent adhere strictly to Federal Decree-Law No. 4 of 2016 on Medical Liability. All genetic data is handled under strict confidentiality protocols, encrypted in transit and at rest, and never shared with third parties without explicit patient consent.
ISO Certification: Our laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139), ensuring international standards of quality management and diagnostic excellence.
Clinical & Logistical Metadata
| Test Name | NPR2 Gene Acromesomelic Dysplasia, Maroteaux Type Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA) or FTA Card |
| Methodology Used | Next-Generation Sequencing (Illumina®) with Sanger Validation |
| ICD-10-CM Code | Q77.8 |
| LOINC Code | 81309-1 |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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