Test Price
2,800 AED✅ Home Collection Available
PRF1 Gene Aplastic Anemia Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PRF1 لفقر الدم اللاتنسجي بتقنية التسلسل الجيني المتقدم (NGS) في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
ISO 9001:2015
Cert: INT/EGQ/2509DA/3139
Executive Summary
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified NGS Processing.
- ✓ Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain Phlebotomy (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.
الملخص التنفيذي
يوفر اختبار التسلسل الجيني المتقدم (NGS) لجين PRF1 دقة تشخيصية تبلغ 99.9% للكشف عن الطفرات المسببة لفقر الدم اللاتنسجي الوراثي في دولة الإمارات. نضمن الامتثال الكامل للمرسوم بقانون اتحادي رقم 41 لسنة 2024 وقانون حماية البيانات الشخصية. تتوفر خدمة السحب المنزلي المعتمد وفق معايير النقل المبرد الدولية.
Clinical Overview: PRF1 Genetic Testing for Aplastic Anemia
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. يكشف هذا الفحص عن الطفرات الجينية في جين PRF1 المرتبطة بفشل نخاع العظم الوراثي.
| 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 Protocol
"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."
— Dr. Prabhakar Reddy, DHA License No: 61713011, Consultant Hematopathologist
⚠ 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 CDS Law 2026)
- 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.
Pre-Test Information & Specimen Collection Logistics
Specimen Types Accepted: Whole Blood (EDTA tube, 3–5 mL), Extracted DNA (minimum 1 µg at ≥ 50 ng/µL), or Dried Blood Spot on FTA Card (single drop). All samples are transported via ISO-certified cold chain at 2–8°C.
Pre-Requisite: A Genetic Counseling session is strongly recommended prior to sample collection. This session facilitates construction of a detailed pedigree chart documenting family members affected with aplastic anemia or related bone marrow failure syndromes. Clinical history of the proband must be provided, including age at onset, prior transfusions, medication history, and any prior bone marrow biopsy results.
Turnaround Time: 3 to 4 Weeks from receipt of sample at the sequencing laboratory. Expedited reporting (2 weeks) may be available for urgent pre-transplant workup — contact our support team for eligibility.
Facility License No: 9834453 | DHA/MOHAP Standard Nomenclature: Molecular Genetics – PRF1 Full Gene Sequencing (NGS) | LOINC: 81247-4
Patient FAQ & Clinical Guidance
Q1: 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.
س1: ما الذي يكشفه اختبار PRF1 الجيني عن تشخيص فقر الدم اللاتنسجي؟
يكشف هذا الاختبار عن الطفرات المرضية في جين PRF1 المرتبطة بفشل نخاع العظم الوراثي، مما يساعد طبيب أمراض الدم في توجيه العلاج وفحص أفراد العائلة.
Q2: 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.
س2: هل يتطلب الاختبار صياماً أو تحضيرات خاصة قبل سحب العينة؟
لا يتطلب اختبار PRF1 الجيني أي صيام، ولكن نوصي بجلسة استشارة وراثية لتوثيق التاريخ العائلي ورسم شجرة النسب قبل سحب العينة.
Q3: 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.
س3: كم تستغرق نتائج اختبار PRF1 وما مدى دقتها للتخطيط العلاجي؟
تظهر النتائج خلال 3 إلى 4 أسابيع بدقة تبلغ 99.9% للطفرات الجينية، مع تقرير سريري معتمد يساعد في اتخاذ القرارات العلاجية بثقة.
UAE Regulatory Compliance & Accreditation
This laboratory service complies with Federal Decree-Law No. 41 of 2024 (Article 87 – Genetic Testing & Informed Consent Requirements), the UAE Personal Data Protection Law (PDPL) governing genomic data privacy, and CDS Law 2026 provisions for minor consent through legal guardians. All testing is performed at a DHA-licensed facility (License No: 9834453) under ISO 9001:2015 Quality Management Systems (Cert: INT/EGQ/2509DA/3139).
2026 ICD-10-CM Codes: D61.9 (Aplastic Anemia, Unspecified) | D61.89 (Other Specified Aplastic Anemias, Including Hereditary) | Z15.89 (Genetic Susceptibility to Other Disease – Family History Screening)
LOINC: 81247-4 – DNA Sequence Analysis by NGS | Methodology: Next-Generation Sequencing (Illumina Platform, ≥100x Mean Coverage) with Sanger Confirmation of Reportable Variants
Relevant Clinical Specialists: Hematologist (Primary) | Oncologist (Bone Marrow Failure Differential) | Clinical Geneticist / Genetic Counselor (Pre- and Post- Counseling)
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
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