Test Price
2,800 AED✅ Home Collection Available
PKHD1 Gene (Polycystic Kidney Disease Type 1, Autosomal Recessive) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل الجين PKHD1 لمرض الكلى المتعدد الكيسات النوع الأول الوراثي المتنحي في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
خلاصة تنفيذية: فحص PKHD1 بتقنية التسلسل الجيني الفائق | دقة 99.9% | خدمة منزلية معتمدة
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a multidisciplinary team.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Clinical Overview
The PKHD1 NGS test comprehensively screens the entire coding region of the PKHD1 gene for pathogenic variants linked to autosomal recessive polycystic kidney disease (ARPKD), a severe hepatorenal fibrocystic disorder. يستخدم هذا الفحص تقنية التسلسل الجيني الفائق (NGS) للكشف عن الطفرات المسببة لمرض الكلى المتعدد الكيسات الوراثي المتنحي، مما يوفر تشخيصاً دقيقاً وتوجيهاً للعائلات المتضررة.
| Feature | Our PKHD1 NGS Test | Closest Alternative (Single‑Gene Sequencing) |
|---|---|---|
| Methodology | Next‑Generation Sequencing (NGS) with 100% exon coverage ± splice sites | Sanger sequencing of selected exons only |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Diagnostic Accuracy | 99.9% analytical sensitivity; includes deep intronic variants by supplemental analysis | Limited to known hotspots; may miss ~15% of mutations |
| Price | 2800 AED (all‑inclusive) | ~4000 AED |
| Regulatory Certification | DHA‑licensed facility (9834453), ISO 9001:2015 | Often lacks UAE‑specific accreditations |
Clinical Insight from Dr. PRABHAKAR REDDY (DHA: 61713011)
“ARPKD is a spectrum disorder requiring a holistic approach; this genetic test confirms the molecular diagnosis and guides nephrology, hepatology, and family counselling. Always correlate genetic findings with abdominal imaging and liver function, as variant interpretation can be nuanced. Our tele‑guidance ensures you never face these results alone.”
⚠️ Do not discontinue prescribed medication without consulting your doctor.
Exclusion Criteria & Emergency Red Flags
- Patients with acute bleeding disorders or inability to give informed consent should defer phlebotomy.
- Not suitable as the sole diagnostic tool in neonates with severe perinatal renal failure; requires parallel biochemical monitoring.
- Seek immediate emergency care if rapid decline in urine output, hypertensive crisis, or hepatic encephalopathy develops—genetic testing outcomes will not replace acute management.
Bilingual Patient FAQ & Clinical Guidance
1. What is the PKHD1 gene test and who should consider it?
Snippet: The PKHD1 genetic test detects mutations causing autosomal recessive polycystic kidney disease, recommended for patients with clinical symptoms, family history, or prior affected siblings.
Candidates include infants with enlarged echogenic kidneys, children with portal hypertension, or adults with unexplained congenital hepatic fibrosis. Pre‑test genetic counselling is mandatory per UAE Federal Decree‑Law No. 41 of 2024 (Art. 87) to ensure informed consent and data privacy under UAE PDPL.
ملخص: يكشف اختبار PKHD1 عن الطفرات المسببة لمرض الكلى المتعدد الكيسات الوراثي المتنحي، ويُوصى به للأفراد الذين تظهر عليهم أعراض سريرية أو لديهم تاريخ عائلي للمرض.
2. How is the sample collected and what preparation is required?
Snippet: A blood sample or DNA from an FTA card is collected during a home visit; a genetic counselling session and pedigree chart are mandatory before testing.
Our certified mobile phlebotomy team arrives between 8 AM and 11 PM using cold‑chain transport. Provide detailed clinical history and family pedigree at least 24 hours prior. No fasting is required, but avoid anticoagulant interference if on blood thinners.
ملخص: تُجمع عينة دم أو حمض نووي على بطاقة FTA خلال زيارة منزلية، ويشترط إجراء جلسة إرشاد وراثي ورسم شجرة العائلة قبل الفحص.
3. What do the results mean and what is the next step after a positive result?
Snippet: A positive result confirms biallelic pathogenic PKHD1 variants, enabling early specialist referral and informed reproductive decisions through genetic counselling.
Post‑ telephonic interpretation explains variant significance and arranges immediate nephrology/hepatology follow‑up. Negative results reduce but do not eliminate ARPKD risk due to rare deep intronic mutations; clinical correlation remains essential.
ملخص: تؤكد النتيجة الإيجابية وجود طفرة جينية متنحية، مما يسمح بتوجيه المريض إلى أخصائي الكلى والكبد واتخاذ خيارات إنجابية مستنيرة.
UAE Regulatory Compliance: This service adheres to Federal Decree‑Law No. 41 of 2024 (Art. 87) on Genetic Non‑Discrimination, the UAE Child Rights Law (CDS Law 2026) for minors, and the UAE Personal Data Protection Law (PDPL). All genetic data is processed strictly within the UAE under DHA License 9834453.
ISO Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Laboratory methodology validated per 2026 CAP/CLSI guidelines for next‑generation sequencing.
Contact: For appointments or insurance verification, WhatsApp +971 54 548 8731. Home collection available daily 8 AM–11 PM.
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التحقق من التغطية التأمينية
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Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
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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All reports reviewed by DHA-Certified physicians