Test Price
2,800 AED✅ Home Collection Available
DBT Gene (Maple Syrup Urine Disease Type 2) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين DBT لمرض البول القيقبي النوع الثاني في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Clinical-Grade Genetic Certainty, Delivered to Your Door
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing, utilizing Next-Generation Sequencing (NGS) with >99% analytical sensitivity and specificity for single nucleotide variants and small indels in the DBT gene. This eliminates diagnostic doubt for Maple Syrup Urine Disease Type 2.
Premium Logistics: Complimentary, hospital-grade cold-chain home collection by certified phlebotomists (8 AM – 11 PM) across all Emirates. Blood, extracted DNA, or one-drop FTA card samples accepted with rigorous chain-of-custody.
Clinical Guidance: Every report includes a complimentary telephonic post-test interpretation session with a senior clinical geneticist to contextualize results, discuss cascade screening, and outline metabolic management pathways.
Insurance & Billing: Direct verification via WhatsApp: +971 54 548 8731. Premium coverage for family history, neonatal suspicion, and premarital screening (CDS Law 2026 compliant).
ملخص تنفيذي
يقدم اختبار تسلسل الجيل التالي لجين DBT دقة تشخيصية بنسبة 99.9% لمرض البول القيقبي النوع الثاني، مع خدمة سحب منزلي معتمدة من الهيئة، وإرشاد طبي ما بعد النتيجة، وامتثال كامل لقانون الصحة الاتحادي رقم 41 لسنة 2024.
Test Overview & Clinical Utility
This advanced Next-Generation Sequencing (NGS) test analyzes the entire coding region of the dihydrolipoamide branched-chain transacylase (DBT) gene, responsible for Maple Syrup Urine Disease Type 2 (MSUD II) — a severe autosomal recessive inborn error of metabolism. The assay is designed for definitive molecular diagnosis in symptomatic neonates, pre-symptomatic sibling screening, and accurate carrier detection in consanguineous UAE populations where prevalence is elevated.
يهدف التحليل الجيني لجين DBT إلى تأكيد الطفرة المسببة لمرض البول القيقبي النوع الثاني، وهو اضطراب استقلابي خطير، مما يُمكّن من التدخل العلاجي المبكر وتقديم الاستشارة الوراثية الدقيقة للعائلات ذات التاريخ المرضي.
| Parameter | Our Test | Closest Alternative |
|---|---|---|
| Precision | 99.9% sensitivity for SNVs/indels | Often limited to hotspot panels |
| Method | Full NGS + ACMG 2026 ML Interpretation | Sanger sequencing (gene subsets) |
| Speed | 3–4 Weeks (urgent infant option) | Often 6–8 Weeks |
Physician Insight & Safety Protocol
“A positive DBT mutation confirms MSUD Type 2 but must be correlated with plasma amino acids and urine organic acids; an early, aggressive low-branched-chain amino acid diet can achieve normal neurodevelopmental outcomes. I urge families to partner with a metabolic specialist from the moment a positive newborn screen is received.”
— Dr. PRABHAKAR REDDY, DHA License: 61713011
⚠ MEDICATION WARNING: Do not discontinue prescribed medication or dietary therapy without consulting your metabolic physician. Abrupt cessation of leucine/isoleucine/valine restriction can trigger life-threatening metabolic crisis.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion (< 2 weeks) may cause donor DNA contamination; bone marrow transplant recipients require alternative sample source (buccal swab). Not validated for large deletion/duplication detection unless paired with MLPA.
- ER Red Flags: If the patient develops vomiting, lethargy, neurological deterioration, or maple syrup odor to urine/cerumen, seek emergency medical attention immediately. Do not wait for genetic results.
- Consent Note: Written informed consent and genetic counseling are mandatory prior to sample collection per UAE Federal Law No. 41 (2024), Article 87.
Frequently Asked Clinical Questions
Q1: What does the DBT gene test detect and how soon can I get results?
This test identifies disease-causing variants in the entire DBT gene through next-generation sequencing, delivering a comprehensive molecular report in 3 to 4 weeks. It reveals point mutations and small insertions/deletions that cause Maple Syrup Urine Disease Type 2, enabling precise diagnosis even when symptoms are subtle.
يكشف الاختبار عن الطفرات المسببة للمرض في كامل جين DBT خلال 3 إلى 4 أسابيع، مما يؤكد التشخيص بدقة.
Q2: Is home sample collection safe for my newborn, and is it included in the 2800 AED?
Absolutely, pediatric-trained phlebotomists visit your home with ISO-certified cold-chain kits, and the collection fee is fully included in the 2800 AED price. For infants, a heel-prick dried blood spot (FTA card) is accepted, minimizing discomfort while preserving DNA integrity for high-quality sequencing.
نعم، يتم سحب العينة منزلياً بواسطة خبراء في سحب دم الأطفال وباستخدام بطاقة FTA دون ألم يُذكر، السعر 2800 درهم شامل.
Q3: Will insurance cover this genetic if my child is symptomatic?
Direct insurance billing is confirmed instantly via WhatsApp at +971545488731; most UAE policies cover medically indicated genetic testing with a physician's referral. Our team handles pre-authorizations for diagnostic suspicion of MSUD, positive newborn screening, or family history, ensuring minimal out-of-pocket cost.
التأمين الطبي يغطي التحليل الجيني عند وجود شك تشخيصي أو تاريخ عائلي؛ تواصل عبر واتساب للتحقق الفوري.
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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.
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All reports reviewed by DHA-Certified physicians