Test Price
2,800 AED✅ Home Collection Available
PNP Gene Immunodeficiency Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين PNP الوراثي لنقص المناعة (عوز نوكليوزيد فوسفوريلاز البيورين) في الإمارات | 2800 درهم | 2026 توجيهات هيئة الصحة بدبي
✅ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited Processing
✅ Premium Logistics: Paid Hospital-Grade Home Collection via ISO-Certified Cold-Chain Home Collection & VIP Mobile Phlebotomy (8 AM – 11 PM)
✅ Clinical Guidance: Telephonic Post-Test Clinical Guidance in Result Interpretation
✅ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731
الفحص الجيني الشامل لجين PNP يوفر دقة تشخيصية 99.9% وفق معايير ISO
Comprehensive PNP Gene Analysis for Purine Nucleoside Phosphorylase Deficiency
This NGS-based Genetic Test detects pathogenic variants in the PNP gene, the definitive cause of purine nucleoside phosphorylase deficiency—a severe combined immunodeficiency with neurological and autoimmune manifestations. يكشف الاختبار الطفرات المسببة لمرض نقص المناعة الوراثي الناتج عن عوز إنزيم نوكليوزيد فوسفوريلاز البيورين.
| Feature | Our Test (DHA-Licensed) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Illumina NovaSeq X Plus, 30× coverage) + Sanger confirmation of reported variants | Sanger sequencing of a single exon / limited hot-spot panel |
| Turnaround Time | 3–4 weeks | 5–8 weeks (often sent abroad) |
| Clinical Sensitivity | >99.9% for SNVs, small indels; CNV analysis available on request | ~85% for targeted mutations only |
Physician Insight & Safety Protocol
“A positive PNP variant must always be interpreted alongside clinical and immunological findings; this test confirms the genetic diagnosis but does not replace thorough immunological phenotyping. Parents of affected children should receive multidisciplinary support, and never alter immunosuppressive or replacement therapy without specialist advice.”
— Dr. PRABHAKAR REDDY, DHA License 61713011, Specialist Clinical Immunologist
Medication Warning
Do not discontinue prescribed medication or immunoglobulin therapy without consulting your doctor. Genetic test results alone are not a basis to alter treatment.
Exclusion Criteria & ER Red Flags
- Patients with active severe infection, respiratory distress, or altered consciousness are not eligible for home phlebotomy—seek emergency care immediately (call 998).
- This test is not for acute diagnosis; it requires clinical stability and informed consent.
- Red flag symptoms: high fever (>39°C) with rigors, severe dehydration, seizures, or sudden worsening of neurological status require immediate emergency department evaluation.
Frequently Asked Questions
What does the PNP gene test detect, and how is it different from standard immune workups?
Our NGS test detects all clinically significant single nucleotide variants, small insertions/deletions, and copy number changes across the entire PNP gene, providing a definitive molecular diagnosis that functional immune assays cannot. يكشف اختبار الجينوم عن جميع الطفرات المهمة سريريًا في جين PNP لتأكيد التشخيص الوراثي الدقيق الذي لا توفّره التحاليل المناعية الوظيفية.
Is home blood collection safe for this, and what samples are accepted?
Home collection is performed by a DHA-licensed phlebotomist using a one-time-use vacuum system; we accept whole blood (EDTA), extracted DNA, or a single drop of blood on an FTA card. تتم عملية سحب العينة منزليًا عبر ممرض مرخص من هيئة الصحة بدبي، ونقبل عينات الدم الكامل أو الحمض النووي المستخلص أو بقعة دم على بطاقة FTA.
How do I interpret a “variant of uncertain significance” result for my child?
A VUS result means the variant’s role in disease is not yet proven; we provide a complimentary genetic counseling session to explain reclassification pathways and follow-up immunological testing. تعني نتيجة الطفرة غير محددة الأهمية أن دورها لم يثبت بعد؛ نوفر جلسة استشارة وراثية مجانية لشرح مسارات إعادة التصنيف والفحوصات المناعية المكمّلة.
UAE Regulatory & Accreditation Compliance
- Compliant with Federal Decree-Law No. 41 of 2024 on Medical Advertising (Art. 87) and the 2026 CDS Law for minors.
- All genetic data handled under UAE PDPL (Federal Decree-Law No. 45 of 2021) with end-to-end encryption.
- ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139) – laboratory processes audited for quality management.
- DHA Facility License: 9834453. Clinical consultation by Dr. Prabhakar Reddy (DHA 61713011).
- LOINC: 101105-8 – PNP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method.
2026 ICD-10-CM Related Codes: E79.8 (Other disorders of purine and pyrimidine metabolism – purine nucleoside phosphorylase deficiency), D81.8 (Other combined immunodeficiencies), Z15.09 (Genetic susceptibility to other disease).
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توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
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