Test Price
2,800 AED✅ Home Collection Available
PRF1 Gene Aplastic Anemia Genetic Test in UAE | 2800 AED | DHA-Licensed Molecular Diagnostics
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 (Daily 8 AM – 11 PM).
- ✓ Clinical Guidance: Complimentary Telephonic Post-Test Result Interpretation with DHA-Licensed Genetic Counselor.
- ✓ Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
The PRF1 NGS genetic test delivers 99.9% diagnostic accuracy for detecting pathogenic variants linked to inherited bone marrow failure syndromes. DNA Labs UAE operates under DHA Facility License 1143 and ISO 9001:2015 certified processes, ensuring full compliance 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.
Test Overview & Methodology
The PRF1 gene encodes perforin, a cytolytic protein critical for immune surveillance and lymphocyte-mediated apoptosis. Pathogenic variants in PRF1 are implicated in familial hemophagocytic lymphohistiocytosis (FHLH2) and have been increasingly associated with inherited bone marrow failure syndromes, including aplastic anemia. This NGS-based single-gene sequencing test analyzes the entire coding region of PRF1 to detect point mutations, small insertions/deletions, and splice-site variants with clinical-grade accuracy.
| Parameter | Our Test – PRF1 NGS (Single Gene) | Closest Alternative – Sanger Sequencing |
|---|---|---|
| Methodology | NGS (Next-Generation Sequencing) – Full Exon Coverage | Sanger Sequencing – Targeted Amplicon |
| Detection Sensitivity | 99.9% (VAF ≥ 5%) | ~95% (Limited to Known Hotspots) |
| Turnaround Time | 3 to 4 Weeks | 2 to 3 Weeks |
| Clinical Report | DHA-Compliant with ACMG Variant Classification | Standard Electropherogram with Basic Annotation |
| Price (AED) | 2800 | 1200 – 1800 (Variable) |
Physician Insight & Safety Protocols
"A positive PRF1 mutation does not, in isolation, confirm aplastic anemia — it must be correlated with complete blood counts, bone marrow biopsy findings, and clinical history. Genetic testing empowers early risk stratification for family members, but the results require nuanced interpretation by a Hematologist or Clinical Geneticist. I urge every patient undergoing this test to attend a formal genetic counseling session to understand the implications for siblings and future offspring."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory & Clinical Guidance
Medication Warning
Do not discontinue or modify any prescribed medication — including immunosuppressants (e.g., cyclosporine, anti-thymocyte globulin), corticosteroids, androgen therapy, or growth factors — without explicit consultation with your treating Hematologist. Abrupt cessation may precipitate acute bone marrow decompensation.
Patient Safety: Exclusion Criteria & Emergency Red Flags
Exclusion Criteria (Home Collection)
- Active fever > 38.5°C or uncontrolled systemic infection
- Platelet count < 10,000/µL with active mucocutaneous bleeding
- Inability to provide informed written consent (or guardian consent for minors per Federal Decree-Law No. 4 of 2016 on Medical Liability)
- Recent packed red blood cell transfusion within 7 days (may interfere with germline DNA extraction yield)
Emergency Red Flags – Seek Immediate Medical Attention
- Spontaneous bruising, petechiae, or uncontrolled epistaxis
- Syncope, severe pallor, or resting tachycardia (signs of critical anemia)
- Fever with absolute neutrophil count < 500/µL (febrile neutropenia)
- Altered mental status or focal neurological deficits
If you experience any of the above, proceed immediately to the nearest Emergency Department. This genetic test is an elective diagnostic procedure and does not constitute emergency care.
Patient FAQ & Clinical Guidance
1. What does the PRF1 genetic test reveal about my aplastic anemia diagnosis?
This test identifies pathogenic mutations in the PRF1 gene that may explain an inherited predisposition to bone marrow failure, enabling your Hematologist to refine your diagnosis, guide family screening, and inform treatment decisions including hematopoietic stem cell transplantation candidacy.
2. Is fasting or any special preparation required before the blood draw for this genetic test?
No fasting or dietary restrictions are necessary for germline genetic testing; however, we recommend scheduling a pre-test genetic counseling session to document a comprehensive three-generation family history and discuss the potential psychosocial implications of results.
3. How long do results take and how accurate is the PRF1 NGS test for clinical decision-making?
Results are delivered within 3 to 4 weeks with 99.9% analytical sensitivity for single nucleotide variants and small indels across all coding exons of PRF1, providing a clinically actionable report classified per ACMG guidelines for confident therapeutic planning.
4. Can home collection be arranged for the PRF1 genetic test?
Yes. For standard whole blood specimens, VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection is available daily from 8 AM to 11 PM. A certified phlebotomist will collect 3–5 mL of blood in an EDTA tube under sterile conditions.
5. Will my insurance cover the cost of the PRF1 NGS test?
Coverage varies by insurer and policy. DNA Labs UAE offers direct billing verification via WhatsApp at +971 54 548 8731. Please contact our support team to check your eligibility and obtain a pre-authorization letter if required.
UAE Regulatory & Data Privacy Adherence
This laboratory service complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing genomic data privacy and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for electronic health data security. All testing is performed at a DHA-licensed facility (License No: 1143) under ISO 9001:2015 Quality Management Systems (Cert: INT/EGQ/2509DA/3139). Patient consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring fully informed consent and responsible genetic testing practices.
For appointments, insurance verification, or clinical inquiries, contact us via WhatsApp: +971 54 548 8731 | Support Hours: 8:00 AM – 11:00 PM GST, 7 Days a Week
Clinical & Logistical Metadata
| Test Name | PRF1 Gene Sequencing – Aplastic Anemia Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA, 3–5 mL), Extracted DNA (≥ 1 µg at ≥ 50 ng/µL), or Dried Blood Spot on FTA Card |
| Methodology Used | Next-Generation Sequencing (Illumina Platform, ≥ 100x Mean Coverage) with Sanger Confirmation of Reportable Variants |
| ICD-10-CM Code | D61.9 (Aplastic Anemia, Unspecified) | D61.89 (Other Specified Aplastic Anemias, Including Hereditary) | Z15.89 (Genetic Susceptibility to Other Disease – Family History Screening) |
| LOINC Code | 81247-4 – DNA Sequence Analysis by NGS |
| DHA Facility License & Laboratory Address | DHA License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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