Test Price
2,800 AEDโ Home Collection Available
GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited NGS Processing
- Premium Logistics: VIP Mobile Phlebotomy and Temperature-Controlled Cold-Chain Home Collection โ Available daily from 8 AM to 11 PM
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for Result Interpretation
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
Test Overview & Methodology
This next-generation sequencing test comprehensively analyzes the GNPAT gene, confirming a clinical diagnosis of rhizomelic chondrodysplasia punctata type 2, a severe peroxisomal disorder that causes skeletal dysplasia and intellectual disability. The test uses full gene sequencing covering coding and selected intronic regions for maximum diagnostic yield.
Our Test vs. Alternative Methods
| Feature | Our NGS Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% sensitivity | ~95% (Sanger sequencing) |
| Coverage | Full gene (coding + intronic) | Single exon only |
| Turnaround | 3โ4 Weeks | 5โ6 Weeks |
Physician Insight & Safety Protocols
“This genetic test provides essential data for diagnosing rhizomelic chondrodysplasia punctata type 2 and guiding early intervention. Results must always be correlated with clinical presentation and biochemical markers. A negative result does not exclude other peroxisomal disorders. Our team is committed to supporting families through every step of the diagnostic journey.”
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Important Medication Advisory
Do not discontinue prescribed medication without consulting your doctor.
Patient Safety: Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Not suitable for prenatal diagnosis without amniocentesis sample; mandatory parental consent for minors under UAE Federal Law No. 4 of 2016 on Medical Liability.
- Before Collection: If patient has acute infection or recent steroid therapy, consult the ordering physician.
- Emergency Red Flags: Seek immediate emergency care if after sample collection the patient develops seizures, respiratory distress, or severe bleeding/bruising.
Patient FAQ & Clinical Guidance
1. What is the GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 NGS test used for?
This NGS test identifies mutations in the GNPAT gene to diagnose rhizomelic chondrodysplasia punctata type 2 and guide clinical management. It helps confirm a clinical suspicion and provides information for family planning and early intervention strategies.
2. How is the sample collected?
A standard peripheral blood sample (5โ10 mL) is collected by our DHAโlicensed phlebotomists during a VIP Mobile Phlebotomy home visit. The sample is transported under temperature-controlled cold-chain to our ISOโaccredited laboratory.
3. How long does it take to get results?
Results are delivered within 3 to 4 weeks via a secure encrypted digital report. Optional telephonic genetic counselling is available upon request to discuss findings and implications.
UAE Regulatory & Data Privacy Adherence
Compliance & Security
- Data handling complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health information is protected under Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical safety and patient consent follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Laboratory operations are ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | GNPAT Gene Rhizomelic Chondrodysplasia Punctata Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (5โ10 mL) โ VIP Mobile Phlebotomy Home Collection Available |
| Methodology Used | Next-Generation Sequencing (NGS) โ Full Gene Sequencing |
| ICD-10-CM Code | Q77.3 (Chondrodysplasia punctata) |
| LOINC Code | 104199-9 (GNPAT gene mutation analysis in Blood by NGS) |
| DHA Facility License & Laboratory Address | DHA License No: 1143, 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