Test Price
2,800 AED✅ Home Collection Available
PRF1 Gene NGS Test for Hemophagocytic Lymphohistiocytosis Type 2 in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited NGS processing with Sanger confirmation.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Telephonic post-test clinical guidance with a physician for result interpretation and genetic counseling referral.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test analyzes the entire coding region of the PRF1 gene to detect pathogenic variants responsible for familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a life-threatening immune dysregulation disorder. The assay employs capture-based enrichment on an Illumina platform with orthogonal Sanger validation to confirm all clinically significant findings.
| Feature | Our Test (PRF1 NGS) | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Detection Precision | 99.9% sensitivity for SNVs, indels; CNV analysis included | Approximately 95% limited to targeted region, no CNV detection |
| Methodology | Capture-based NGS (Illumina) with orthogonal Sanger validation | Sanger sequencing only |
| Turnaround Time | 3–4 weeks | 4–6 weeks |
| Sample Types | Whole blood, extracted DNA, dried blood spot (FTA card) | Whole blood only |
Physician Insight & Safety Protocols
Note from Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA: 9294403): "Awaiting a genetic result for suspected HLH is emotionally taxing for families. While this NGS test is highly accurate, a positive result must be interpreted in concert with clinical criteria including fever, splenomegaly, and cytopenias, as well as functional assays. A variant of uncertain significance does not constitute a diagnosis. I urge strict clinical correlation before altering any treatment plan."
Medication Advisory
Do not discontinue prescribed medication or alter immunomodulatory therapy without consulting your managing physician. Genetic results alone do not dictate emergency interventions. Always coordinate treatment decisions with your primary care team.
Exclusion Criteria & Emergency Red Flags
- Sample Exclusion: Recent blood transfusion within 2 weeks may introduce donor DNA; a buccal swab or extracted DNA is recommended if scheduling conflicts arise.
- Clinical Exclusion: Patients with active uncontrolled HLH requiring immediate ICU care should delay elective testing until stabilized.
- Emergency Red Flags – Seek immediate medical attention if:
- High-grade fever greater than 39°C unresponsive to antipyretics
- Rapidly dropping blood counts manifesting as severe anemia, neutropenia, or thrombocytopenia
- New neurological symptoms including seizures, altered consciousness, or ataxia
This test is not a substitute for urgent clinical evaluation. In case of any red flag, proceed to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What is the PRF1 gene test, and why is it prescribed?
Direct Answer: This NGS test sequences the PRF1 gene to identify mutations causing familial hemophagocytic lymphohistiocytosis type 2, a hereditary immune disorder that can lead to severe inflammation and organ damage if untreated.
2. How should I prepare for the test, and does it require fasting?
Direct Answer: No fasting is required. You may provide a blood sample, extracted DNA, or a dried blood spot on an FTA card after completing mandatory genetic counseling. Stay hydrated and inform your provider of any recent transfusions.
3. How long do results take, and how will I receive them?
Direct Answer: Results are available in 3–4 weeks and are delivered via a secure electronic report. An optional post-test telephonic clinical guidance session with a genetics specialist is included to help interpret findings and coordinate next steps.
UAE Regulatory & Data Privacy Adherence
Fully Compliant with UAE Healthcare Laws: This laboratory operates under Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Clinical safety and patient consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory holds ISO 9001:2015 certification (Cert: INT/EGQ/2509DA/3139). Genetic counseling is provided pre-test to meet DHA and MOHAP standards for informed consent and result disclosure.
Clinical & Logistical Metadata
| Test Name | PRF1 Gene NGS Test for Hemophagocytic Lymphohistiocytosis Type 2 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or dried blood spot (FTA card) |
| Methodology Used | Capture-based Next-Generation Sequencing (Illumina) with orthogonal Sanger validation |
| ICD-10-CM Code | D76.1 |
| LOINC Code | 83267-1 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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