Test Price
2,800 AED✅ Home Collection Available
HADHB Gene Trifunctional Protein Deficiency Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل الجين HADHB لنقص البروتين الثلاثي الوظائف في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited next-generation sequencing.
- 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 for result interpretation by a DHA-licensed genetic counselor.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
ملخص تنفيذي (عربي): اختبار جيني شامل للكشف عن طفرات جين HADHB بدقة تفوق 99.9%، مع خدمة سحب عينات منزلية معتمدة وفق معايير الجودة ISO ودعم استشارة ما بعد الفحص. يتم إصدار النتائج خلال 3-4 أسابيع مع تفسير سريري متكامل.
Overview
This NGS-based HADHB gene test delivers a comprehensive analysis of the entire coding region to identify pathogenic variants causing mitochondrial trifunctional protein deficiency—a severe fatty acid oxidation disorder affecting the liver, kidneys, and endocrine system. اختبار جيني متقدم يعتمد على التسلسل من الجيل التالي لتحديد الطفرات المرضية في الجين HADHB المرتبطة بنقص البروتين الثلاثي الوظائف الميتوكوندريا.
| Feature | Our Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% Diagnostic Sensitivity (NGS full gene sequencing) | Biochemical enzyme assay / acylcarnitine profile (sensitivity ~80%) |
| Methodology | Next Generation Sequencing (NGS) with CNV detection | Tandem mass spectrometry of blood spots + fibroblast enzyme assay |
| Turnaround Time | 3–4 Weeks | 4–8 Weeks (requires cell culture) |
Physician Insight & Safety Protocol
A Note from Dr. PRABHAKAR REDDY, DHA License 61713011:
“I encourage all patients and families to interpret this genetic result in close collaboration with a clinical geneticist or metabolic specialist. A positive result alone does not dictate the outcome; comprehensive clinical correlation, dietary management, and regular monitoring are essential for optimal care.”
Safety & Exclusion Criteria
- Exclusion Criteria: Patients currently in an acute metabolic crisis (vomiting, lethargy, hypoglycemia) require immediate emergency care; sample collection should be deferred. This test is not suitable for forensic or legal parentage determination.
- Pre-test Requirements: Mandatory genetic counseling session to draw a detailed pedigree chart of family members affected by HADHB gene mutations. Written informed consent per UAE Federal Decree-Law No. 41 of 2024 (Art. 87).
- ER Red Flags: Seek emergency medical attention if the patient exhibits sudden onset of severe vomiting, hypotonia, seizures, or signs of hepatic encephalopathy after sample collection. These could indicate underlying metabolic decompensation.
Patient FAQ & Clinical Guidance
1. What does a positive HADHB genetic result mean for my child or myself?
A positive result confirms the presence of one or two disease-causing variants in the HADHB gene, indicating a diagnosis of mitochondrial trifunctional protein deficiency or carrier status. تؤكد النتيجة الإيجابية وجود طفرة أو طفرتين مسببين للمرض في جين HADHB، مما يشير إلى تشخيص نقص البروتين الثلاثي الوظائف أو حالة حمل للمرض. Clinical severity varies; immediate referral to a metabolic specialist and dietary intervention are critical.
2. How should I prepare for the sample collection, and is fasting required?
You do not need to fast; simply provide a blood sample or buccal swab as instructed by our DHA-certified home collection phlebotomist. لا تحتاج إلى الصيام؛ يكفي تقديم عينة دم أو مسحة شدقية وفق تعليمات أخصائي السحب المنزلي المعتمد من هيئة الصحة بدبي. Ensure the genetic counseling session has been completed beforehand.
3. Why do results take 3–4 weeks, and how will I receive them?
The comprehensive NGS workflow—library preparation, sequencing, bioinformatics analysis, and clinical interpretation—requires 3–4 weeks for definitive reporting. تتطلب عملية التسلسل الكامل للجين من الجيل التالي وتحليل البيانات وإعداد التقرير السريري 3-4 أسابيع لضمان دقة التشخيص. Results are delivered via a secure patient portal, and a telephonic consultation is scheduled.
This service is compliant with UAE Federal Decree-Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors), and UAE PDPL. ISO 9001:2015 Cert: INT/EGQ/2509DA/3139. DHA Facility License: 9834453. Support: WhatsApp +971 54 548 8731.
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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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