Test Price
2,800 AED✅ Home Collection Available
PQBP1 Gene (Renpenning Syndrome) Next‑Generation Sequencing DNA Test in UAE | 2800 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015‑certified NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic post‑test guidance by a DHA‑licensed Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
- Price: 2,800 AED – Flat rate, no hidden fees.
- Turnaround Time: 3–4 weeks from sample receipt.
Test Overview & Methodology
This targeted Next‑Generation Sequencing (NGS) test analyses the entire coding region of the PQBP1 gene to detect pathogenic variants causing Renpenning syndrome (X‑linked intellectual disability). The methodology includes targeted enrichment, deep sequencing, and Sanger confirmation of all clinically relevant variants, ensuring >99.9% sensitivity and specificity for coding region mutations.
| Feature | Our Test (PQBP1 NGS) | Closest Alternative (WES/WGS) |
|---|---|---|
| Precision | >99.9% sensitivity for coding variants | Variable; may miss deep intronic variants |
| Method | Targeted NGS + Sanger confirmation | Whole‑exome or genome sequencing |
| Turnaround Time | 3–4 Weeks | 6–12 Weeks |
| Cost | 2,800 AED | 5,000–8,000 AED |
Physician Insight & Safety Protocols
“Renpenning syndrome presents with a spectrum of intellectual disability and distinct dysmorphism. This NGS test confirms the clinical suspicion with high accuracy, but results must be interpreted alongside a complete neurological and developmental assessment. A negative report does not rule out other genetic aetiologies; follow‑up with a clinical geneticist is essential.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403
Advisory Notice
Do not discontinue any prescribed medication or therapy without consulting your treating physician. This test is not a substitute for ongoing clinical care.
Exclusion Criteria & Red Flags
- Unstable acute illness requiring immediate medical attention.
- Minors without signed consent from a legal guardian (UAE Child Protection Law).
- Lack of prior genetic counselling – a DHA‑mandated counselling session is compulsory.
- Emergency Red Flags: If you experience severe psychological distress, suicidal ideation, or acute anxiety triggered by the testing process, contact your doctor or call 999 immediately.
Patient FAQ & Clinical Guidance
1. What is the PQBP1 gene Renpenning syndrome NGS test, and who should consider it?
This test uses next‑generation sequencing to detect disease‑causing mutations in the PQBP1 gene with >99.9% sensitivity. It is recommended for individuals with clinical features suggestive of Renpenning syndrome (intellectual disability, dysmorphic features, family history of X‑linked intellectual disability) and for carrier testing in at‑risk female relatives.
2. How long does it take to get the results, and how are they delivered?
Results are typically available in 3 to 4 weeks from sample receipt. The process involves sequencing, bioinformatics analysis, and clinical interpretation. A detailed report is delivered digitally via secure portal and discussed in a telephonic consultation with a medical geneticist.
3. Is the test covered by UAE health insurance?
Many UAE insurers cover genetic testing when a neurologist or clinical geneticist provides a medical necessity letter. We assist with direct billing verification via WhatsApp to determine coverage before proceeding.
4. What sample is required, and can I collect it at home?
The test requires a peripheral whole blood sample (5–10 mL in EDTA tube). For patient convenience, we offer VIP Mobile Phlebotomy at your home between 8 AM and 11 PM daily, using temperature‑controlled cold‑chain logistics.
UAE Regulatory & Data Privacy Adherence
This test is performed under the strict regulatory oversight of the Dubai Health Authority (DHA Facility License No. 1143). All clinical data handling complies 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. Genetic data is encrypted, anonymized, and never shared with third parties without explicit patient consent. Patient safety procedures adhere to Federal Decree‑Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | PQBP1 Gene (Renpenning Syndrome) Next‑Generation Sequencing DNA Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) |
| Methodology Used | Next‑Generation Sequencing (NGS) with Sanger confirmation |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 103150-1 |
| DHA Facility License & Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians