Test Price
2,800 AED✅ Home Collection Available
KMT2D Gene (Kabuki Syndrome Type 1) Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل الجين KMT2D (متلازمة كابوكي النوع 1) بتقنية التسلسل الجيني الشامل في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Patient Trust Promise
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139). ضمان الدقة التشخيصية 99.9% عبر مختبر معتمد آيزو.
- Premium Logistics: Paid Hospital-Grade Home Collection with ISO Certified Cold-Chain Transport & VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance by DHA-Licensed Genetic Counsellor. استشارة وراثية هاتفية ما بعد الفحص مجاناً.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Clinical Overview
This comprehensive NGS-based assay analyses the entire coding region and exon-intron boundaries of the KMT2D gene to diagnose Kabuki syndrome type 1, an autosomal dominant disorder marked by distinct facial features, growth retardation, and intellectual disability. يُعد هذا الفحص المعياري الذهبي لتأكيد متلازمة كابوكي من النوع الأول في الإمارات ويدعم القرارات العلاجية والوراثية.
| Feature | Our Test (KMT2D NGS) | Closest Alternative (Sanger/MLPA) |
|---|---|---|
| Precision | Full gene sequencing + deletion/duplication (CNV) detection | Targeted mutation hotspots only; misses novel variants |
| Methodology | Next-Generation Sequencing (NGS) with >100× read depth | Sanger sequencing or MLPA (separate tests) |
| Turnaround Time | 3 to 4 Weeks | 6–8 Weeks (when combining methods) |
Physician Insight & Safety Protocol
“This test provides definitive molecular confirmation when clinical suspicion is high. A negative result does not exclude atypical presentations; therefore, variant interpretation must be correlated with detailed dysmorphology assessment and family history.” — Dr. PRABHAKAR REDDY, DHA License: 61713011, Consultant Paediatrician.
⚠ Medication Advisory: Do not discontinue any prescribed medication or supplement without explicit instruction from your treating physician. This test does not assess drug metabolism.
Safety Exclusion Criteria & Emergency Red Flags
- Active systemic infection or febrile illness – postpone collection.
- Known coagulopathy or severe thrombocytopenia (platelets <50,000/μL).
- History of severe adverse reaction to venipuncture or lidocaine (if topical anaesthesia considered).
- ER Alert: If the child experiences sudden seizures, unresponsive episodes, or choking, proceed to the nearest emergency department immediately.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of KMT2D gene testing?
يكشف تحليل جين KMT2D الطفرات المسببة لمتلازمة كابوكي، مما يوجه التشخيص المبكر والتدخلات العلاجية وخطط المراقبة الطبية مدى الحياة.
This test identifies pathogenic variants in the KMT2D gene, confirming Kabuki syndrome type 1. A positive result enables early intervention (cardiac, renal, immunological screening), accurate recurrence risk counselling for family planning, and avoidance of unnecessary alternative diagnostic odysseys.
2. How is the sample collected for this genetic analysis?
يتم جمع عينة دم وريدي بسيطة (2-3 مل) بواسطة ممرض مختص في المنزل أو عبر بطاقة FTA لنقل آمن ومعقم.
A DHA-licensed phlebotomist extracts 2–3 mL of whole blood in an EDTA tube during a VIP home visit, or a single drop of blood on an FTA card is sufficient. Extracted DNA from existing samples can also be submitted. Strict cold‑chain logistics maintain sample integrity from collection to the ISO‑certified laboratory.
3. What is the turnaround time and total cost in the UAE?
تظهر النتائج النهائية خلال 3 إلى 4 أسابيع بتكلفة إجمالية 2800 درهم تشمل الفحص والاستشارة الوراثية الأولية.
The standard report is delivered in 3–4 weeks. The all‑inclusive fee of 2800 AED covers the NGS laboratory analysis, a pre‑test genetic counselling session to draw a detailed pedigree, and a post‑ telephonic interpretation. Urgent processing may be available upon clinical request; please contact our team for insurance pre‑authorization.
دعم ثنائي اللغة متاح
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.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians