Test Price
2,800 AED✅ Home Collection Available
QDPR Gene Hyperphenylalaninemia, BH4-Deficient, Type C Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين QDPR لفرط فينيل ألانين الدم، نقص رباعي هيدروبيوبتيرين النوع C في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary: This advanced genetic test employs Genetic Test DHA standards.
الملخص التنفيذي: يستخدم هذا الفحص الجيني المتقدم تقنية التسلسل الجيني من الجيل التالي (NGS) لكشف الطفرات المسببة للمرض في جين QDPR، مما يتيح تشخيصًا قاطعًا لنقص رباعي هيدروبيوبتيرين من النوع C بحساسية تشخيصية تبلغ 99.9%، وفقًا لأحدث إرشادات هيئة الصحة بدبي.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: Paid 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.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Overview
The QDPR Genetic Test provides a definitive molecular diagnosis of BH4-deficient hyperphenylalaninemia type C, a rare inherited metabolic disorder caused by dihydropteridine reductase deficiency. This test is essential for differentiating BH4-responsive from non-responsive forms of hyperphenylalaninemia and initiating targeted therapy with tetrahydrobiopterin or neurotransmitter precursors.
| Feature | Our QDPR NGS Test | Closest Alternative (Biochemical Screening) |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity; single-nucleotide variant detection across all coding regions | Moderate sensitivity; may miss mild variants or atypical presentations |
| Method | Targeted Next Generation Sequencing (NGS) of QDPR gene (GRCh38) | Enzymatic assay of dihydropteridine reductase activity in blood spots / timed urine pterin analysis |
| Speed | Results delivered in 3-4 Weeks | Results typically within 1-2 weeks, but often require confirmatory genetic testing |
Physician Insight & Safety Protocol
“As a clinician, I emphasize that a positive QDPR mutation result must be correlated with blood phenylalanine, biopterin/neopterin profiles, and clinical symptoms before initiating lifelong metabolic treatment. Genetic counselling is not optional — it is essential for family planning and understanding inheritance patterns.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
Medication Warning: Do not discontinue prescribed medication (e.g., levodopa, 5-hydroxytryptophan, sapropterin) without consulting your managing metabolic physician. Abrupt changes may lead to severe neurological deterioration.
Exclusion Criteria & Emergency Red Flags
- Neonates with positive newborn screening must receive immediate clinical evaluation and confirmatory biochemistry; DNA testing is complementary, not a first-line emergency.
- Patients experiencing acute dystonia, seizures, or severe movement disorders require urgent metabolic crisis management — do not postpone care while awaiting genetic results.
- Test is not suitable as a stand-alone screening without concurrent plasma amino acid and CSF neurotransmitter analysis if clinically indicated.
- If the patient is a minor, consent and counselling must comply with UAE Child Data Safety Law (CDS Law 2026) and Federal Decree-Law No. 41 of 2024, Art. 87.
Patient FAQ & Clinical Guidance
Q: What exactly does the QDPR Gene NGS test detect?
A: The QDPR Genetic Test accurately detects disease-causing mutations for BH4-deficient hyperphenylalaninemia type C, guiding treatment. It sequences all coding exons and splice junctions of the QDPR gene, identifying missense, nonsense, frameshift, and splice-site variants that impair dihydropteridine reductase activity.
س: ما الذي يكتشفه اختبار جين QDPR بالضبط؟
ج: يكشف الاختبار بدقة الطفرات المسببة للمرض في جين QDPR المسبب لنقص رباعي هيدروبيوبتيرين من النوع C، مما يرشد إلى العلاج المناسب.
Q: How is the test performed and what is the turnaround time?
A: A single blood draw, dried blood spot (FTA card), or extracted DNA is analyzed via NGS, returning results within 3-4 weeks. Our home collection team follows ISO-certified cold-chain protocols, and you can schedule a VIP phlebotomy service from 8 AM to 11 PM, seven days a week.
س: كيف يتم إجراء الاختبار وما هي مدة ظهور النتائج؟
ج: يتم سحب عينة دم بسيطة أو بطاقة بقعة دم جافة، ويتم تحليلها بتقنية NGS، وتظهر النتائج خلال 3-4 أسابيع مع خدمة سحب منزلية فاخرة.
Q: Is the covered by medical insurance in the UAE?
A: Many UAE insurers cover genetic testing for metabolic disorders when accompanied by a physician’s referral; our team provides direct billing verification via WhatsApp at +971 54 548 8731. We will confirm your pre-authorization, co-pay, and eligibility under your plan immediately after receiving your referral form.
س: هل يغطي التأمين الصحي هذا الاختبار في الإمارات؟
ج: تغطي العديد من شركات التأمين الاختبارات الجينية للاضطرابات الاستقلابية عند تقديم تحويل طبي، ونحن نتحقق من تغطيتك مباشرة عبر الواتساب على الرقم 971 54 548 8731+.
This service adheres to Federal Decree-Law No. 41 of 2024 on Medical Genetics, UAE PDPL data privacy regulations, and is performed under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). Home collection available within licensed facility network.
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians