Test Price
2,800 AEDโ Home Collection Available
AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited 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 a DHA-licensed genetic counselor.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The AGPS NGS test analyses the entire coding region of the AGPS gene to detect pathogenic variants associated with Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3), a severe peroxisomal biogenesis disorder. This molecular diagnosis enables early genetic counseling and informed family planning.
| Feature | Our Test (Best-in-Class) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) โ full gene coverage | Sanger sequencing of selected exons only |
| Diagnostic Yield | >99% detection of single nucleotide variants & small indels | ~85% (limited by targeted regions) |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics with DHA, I emphasize that the NGS test offers unparalleled precision in identifying AGPS gene mutations, but results require interpretation alongside comprehensive pedigree analysis. Genetic counseling is mandatory. Do not stop any prescribed medications without consulting your doctor.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory: Medication & Safety Notice
โ ๏ธ Do not discontinue prescribed medication without consulting your doctor.
Results from this test may influence treatment decisions; any medication changes must be directed by the managing physician.
Exclusion Criteria & Pre-Test Requirements
- Exclusion for Blood Draw: Active febrile illness, known coagulopathy, platelet count <50,000/ยตL, or ongoing high-dose anticoagulant therapy (clearance required).
- Minors: Written informed consent from a legal guardian is mandatory per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Pre-test Requirement: A detailed clinical history and a genetic counselling session to draw a pedigree chart of family members affected with AGPS gene-related conditions.
๐จ Seek immediate medical attention for new-onset seizures, apnea, acute skeletal deformity, or signs of metabolic crisis.
Patient FAQ & Clinical Guidance
1. What exactly does the AGPS gene test detect?
This test identifies pathogenic DNA variants in the AGPS gene responsible for Rhizomelic Chondrodysplasia Punctata Type 3. The NGS assay covers the entire coding sequence, detecting point mutations, small deletions/insertions, and copy number variations, providing a definitive molecular diagnosis for dysmorphology evaluation.
2. Why is NGS preferred over traditional sequencing for this condition?
NGS provides simultaneous, high-depth analysis of all AGPS exons, reducing the diagnostic odyssey by weeks. Traditional Sanger methods require exon-by-exon testing, delaying results. Our NGS workflow delivers comprehensive variant detection in a single run, aligned with current clinical standards.
3. How long until I receive results, and who will interpret them?
Results are ready within 3โ4 weeks and include a comprehensive clinical report interpreted by a DHA-licensed geneticist. A telephonic post-test consultation with a specialist genetic counselor is included to explain findings, inheritance patterns, and family planning options.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Privacy
This test adheres 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 sample processing occurs at an ISO 9001:2015 accredited facility (Cert: INT/EGQ/2509DA/3139). Patient genomic data is stored and transmitted using encrypted, DHA-approved protocols under DHA Facility License No. 1143.
Clinical & Logistical Metadata
| Test Name | AGPS Gene Rhizomelic Chondrodysplasia Punctata Type 3 (RCDP3) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next Generation Sequencing (NGS) โ full gene coverage |
| ICD-10-CM Code | Q77.3 |
| LOINC Code | 48767-8 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians