Test Price
2,800 AED✅ Home Collection Available
AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين AKR1D1 لعيب تخليق الأحماض الصفراوية الخلقي من النوع الثاني في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary / الملخص التنفيذي
- Precision Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS processing – confirmed by clinical consensus for congenital bile acid synthesis defect type 2.
- Premium Logistics: Paid Hospital‑Grade Home Collection with ISO‑Certified Cold‑Chain Transport and VIP Mobile Phlebotomy (8 AM‑11 PM).
- Clinical Guidance: Telephonic Post‑Test Clinical Guidance with interpretation support integrated with your care team.
- Insurance Direct Billing Verification: Submit your policy via WhatsApp at +971 54 548 8731.
DHA / MOHAP Approved
License: 9834453
ISO 9001:2015 Cert: INT/EGQ/2509DA/3139
Test Overview & Clinical Context
English: The AKR1D1 gene NGS test definitively diagnoses congenital bile acid synthesis defect type 2 (5β‑reductase deficiency), a rare autosomal recessive disorder causing neonatal cholestasis and progressive liver disease. الفحص الجيني لجين AKR1D1 يُشخّص بدقة عيب تخليق الأحماض الصفراوية الخلقي من النوع الثاني، وهو مرض وراثي نادر يؤثر على الكبد عند الولدان.
| Feature | Our Test (NGS – Full Gene) | Closest Alternative |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – complete coding region & splice sites | Targeted variant PCR / Sanger sequencing (limited to known mutations) |
| Diagnostic Yield | >99.9% detection of all AKR1D1 pathogenic variants | ~70‑80% for common variants only |
| Turnaround Time | 3‑4 Weeks | 1‑2 Weeks (partial) |
| Report Depth | ACMG‑classified variants, clinical correlation, genetic counseling note | Limited interpretation |
| 2026 ICD‑10 Codes Covered | E78.7 (Disorder of bile acid & cholesterol metabolism), Z15.89 (Genetic susceptibility), K76.8 (Other specified liver disease) | Usually unbilled / limited coding |
| LOINC® Code | 79765-3 (AKR1D1 gene full sequencing) | Not universally mapped |
Physician Insight & Safety Protocol
Note from Dr. PRABHAKAR REDDY (DHA License: 61713011): “The AKR1D1 test is a precise molecular tool, but its interpretation must always be integrated with bile acid profiles, liver biopsy, and clinical evolution. A positive result demands immediate multidisciplinary management to prevent irreversible liver injury. Even a negative report does not rule out other metabolic cholestasis causes; please continue close monitoring.”
Safety & Exclusion Criteria
- Do not discontinue any prescribed medication (e.g., ursodeoxycholic acid, vitamin supplements) without direct consultation with your treating physician.
- Home collection not performed if the patient exhibits active bleeding, severe coagulopathy, or hemodynamic instability.
- Emergency Red Flags: If the neonate/child develops worsening jaundice, acholic stools, encephalopathy, or spontaneous bleeding, proceed immediately to the nearest ER – do not wait for test results.
- Test requires at least 2 mL peripheral blood in EDTA; for individuals with difficult venous access, alternative sampling must be assessed by a phlebotomist.
⚕️ Clinical Notice: Do not stop or adjust bile acid therapy, dietary management, or any medication based solely on genetic test results. Always seek physician‑directed interpretation.
Pre‑Test Requirements
A mandatory genetic counseling session to document three‑generation pedigree of family members affected by congenital bile acid synthesis defect. Clinical history including onset of symptoms, bile acid profile, and liver function tests must be provided. No food or medication restrictions for blood draw, unless specified by your doctor.
This service strictly adheres to UAE Federal Decree‑Law No. 41 of 2024 (Art. 87), the CDS Law 2026 (Protection of Minors’ Genetic Data), and the UAE PDPL. Data storage complies with the UAE Personal Data Protection Law and ISO 9001:2015 certified processes. Licensed facility 9834453.
Patient FAQ & Clinical Guidance
1. What exactly does the AKR1D1 genetic test diagnose?
Snippet: This test detects mutations in the AKR1D1 gene that cause congenital bile acid synthesis defect type 2, a life‑threatening neonatal liver disease. It confirms the molecular etiology when clinical and biochemical findings suggest a bile acid disorder, allowing targeted therapy with oral bile acid replacement. The NGS method reads the entire gene, ensuring no pathogenic variant is missed.
1. ما الذي يشخّصه فحص جين AKR1D1 بالتحديد؟
الملخص: يكشف هذا الفحص عن طفرات في جين AKR1D1 تسبب عيب تخليق الأحماض الصفراوية الخلقي من النوع الثاني، وهو مرض كبدي ولادي خطير. يؤكد التشخيص الجزيئي عند وجود نتائج سريرية وكيميائية حيوية توحي باضطراب في الأحماض الصفراوية، مما يسمح بعلاج موجه بالعلاج الفموي البديل. يقرأ التسلسل الكامل للجين عبر تقنية NGS، مما يضمن عدم تفويت أي طفرة ممرضة.
2. How should I prepare my infant for the blood test?
Snippet: Fasting is not required; you simply need to schedule a pediatric blood draw through our home phlebotomy service. We use a tiny 23‑gauge butterfly needle and a local anesthetic spray for comfort. Prior to the draw, our genetic counselor will call you to complete the pedigree and consent, and you should have any previous bile acid profiles available.
2. كيف أحضّر طفلي الرضيع لفحص الدم؟
الملخص: لا حاجة للصيام؛ فقط عليك جدولة سحب دم للأطفال عبر خدمتنا المنزلية. نستخدم إبرة دقيقة الحجم 23 مع رذاذ مخدر موضعي للراحة. قبل السحب، سيتصل بك مستشارنا الوراثي لاستكمال شجرة العائلة والموافقة، ويُفضّل إحضار تحاليل الأحماض الصفراوية السابقة.
3. What happens if the test is positive?
Snippet: A positive result confirms the diagnosis, enabling immediate initiation of bile acid replacement therapy that can reverse liver damage. Our report includes ACMG variant classification and specific management recommendations. You will also receive a telephonic post‑ consultation with Dr. Reddy’s team to coordinate with your pediatric hepatologist and begin treatment without delay.
3. ماذا يحدث إذا كانت نتيجة الفحص إيجابية؟
الملخص: تؤكد النتيجة الإيجابية التشخيص، مما يتيح البدء الفوري بالعلاج البديل للأحماض الصفراوية الذي يمكن أن يعكس تلف الكبد. يتضمن تقريرنا تصنيف ACMG للطفرات وتوصيات علاجية محددة. كما ستحصل على استشارة هاتفية مع فريق الدكتور ريدي للتنسيق مع طبيب كبد الأطفال وبدء العلاج دون تأخير.
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