Test Price
2,800 AED✅ Home Collection Available
DIS3L2 Gene Perlman Syndrome Genetic Test | NGS Sequencing & Diagnosis UAE
Executive Summary & Core Metrics
Core Performance Indicators
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited Next-Generation Sequencing.
- 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 Consultant Medical Geneticist.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The DIS3L2 Gene Perlman Syndrome Genetic Test utilizes advanced Next-Generation Sequencing (NGS) to analyze the DIS3L2 gene. Perlman syndrome is a rare congenital overgrowth disorder characterized by renal hamartomas, nephroblastomatosis, and fetal macrosomia. Definitive molecular diagnosis is critical for initiating Wilms tumor surveillance protocols and providing accurate genetic counseling. Our whole-gene sequencing methodology covers all coding exons and flanking intronic regions, ensuring high analytical validity.
| Feature | Our Test (DIS3L2 NGS) | Closest Alternative |
|---|---|---|
| Precision | >99.9% analytical sensitivity & specificity | Sanger sequencing (lower throughput) |
| Method | Next-Generation Sequencing (NGS) with comprehensive bioinformatics pipeline | Targeted mutation analysis only |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that a definitive molecular diagnosis of Perlman syndrome through comprehensive DIS3L2 sequencing enables precise prognostic counseling and tiered Wilms tumor surveillance. Negative results do not entirely exclude syndromic overlap; clinical correlation with renal ultrasound findings and family history remains paramount for comprehensive risk assessment,” states Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA ID: 9294403).
Clinical Advisory Notice
Genetic testing for Perlman syndrome is intended for diagnostic confirmation and surveillance planning. Patients should continue all prescribed medical management and imaging protocols unless otherwise directed by their primary specialist.
Exclusion Criteria & Emergency Red Flags
- Active malignancy requiring urgent oncology intervention – coordinate with a genetic counselor before genetic testing.
- Current pregnancy with ultrasound anomalies suspicious for overgrowth syndromes – immediate maternal-fetal medicine consult required.
- Symptoms of acute renal failure or obstructive uropathy – seek emergency care.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of the DIS3L2 NGS genetic test?
This test confirms the molecular diagnosis of Perlman syndrome in individuals presenting with clinical features such as renal hamartomas, nephroblastomatosis, and fetal overgrowth. A positive result directs lifelong Wilms tumor surveillance and informs family planning.
2. How is the sample collected for this genetic test?
The test is performed on a standard peripheral whole blood sample (3-5 mL in an EDTA tube). DNA Labs UAE provides a VIP Mobile Phlebotomy service with temperature-controlled cold-chain collection at your residence in Dubai from 8 AM to 11 PM, daily.
3. What is the turnaround time and how will I receive my results?
Results are typically available within 3–4 weeks of sample receipt at our accredited laboratory. A comprehensive molecular report is provided electronically via our secure patient portal, followed by a telephonic consultation with the genetics specialist to contextualize the findings.
4. Is this genetic test covered by health insurance in the UAE?
Coverage varies by insurance provider and policy. Our billing team performs direct verification of genetic test benefits upon submission of your insurance card via WhatsApp (+971 54 548 8731) prior to sample collection.
UAE Regulatory & Data Privacy Adherence
Data Security & Legal Compliance: Patient genetic data is processed under the strict framework of 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, testing protocols, and patient consent standards adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Quality Oversight: Our laboratories operate under ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139) and are fully licensed by the Dubai Health Authority (DHA Facility License No. 1143).
Clinical & Logistical Metadata
| Test Name | DIS3L2 Gene Perlman Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 99534-4 |
| DHA Facility License & Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. License No. 1143. |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians