Test Price
2,800 AED✅ Home Collection Available
DHTKD1 Gene Analysis (2-Aminoadipic 2-Oxoadipic Aciduria) – Genetic Test in UAE | 2800 AED | 2026 DHA Guidelines
تحليل جين DHTKD1 لكشف بيلة حمض 2-أمينوأديبيك و2-أوكسوأديبيك في الإمارات | 2800 درهم | معتمد من هيئة الصحة بدبي 2026
Executive Summary & Patient Guarantee
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Hospital-Grade Home Collection via ISO-Certified Cold-Chain Transport & VIP Mobile Phlebotomy (8 AM – 11 PM daily).
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Correlation Session with our genetic counseling team.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
يقدم هذا التحليل الجيني المتطور باستخدام تقنية التسلسل من الجيل التالي (NGS) تشخيصاً دقيقاً لبيلة حمض 2-أمينوأديبيك و2-أوكسوأديبيك، وهو اضطراب استقلابي وراثي نادر. نضمن دقة تشخيصية تصل إلى 99.9% من خلال مختبرنا المرخص والحاصل على شهادة الأيزو 9001:2015، مع خدمة سحب عينات منزلية معتمدة وفق أعلى معايير الجودة والامتثال الكامل للمرسوم بقانون اتحادي رقم 41 لسنة 2024 وقانون حماية البيانات الشخصية في دولة الإمارات.
Overview
The DHTKD1 Genetic Test screens for pathogenic variants in the DHTKD1 gene associated with 2-aminoadipic 2-oxoadipic aciduria — a rare autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan metabolism. This test employs next-generation sequencing for comprehensive coding-region analysis, delivering definitive molecular confirmation for metabolic specialists and families across the UAE. يكشف هذا الفحص الجيني عن الطفرات المسببة لبيلة حمض الأمينوأديبيك الثنائي، مما يتيح التشخيص المبكر والاستشارة الوراثية الدقيقة للعائلات في دولة الإمارات.
| Feature | Our NGS Test (DHA-Licensed) | Closest Alternative (Biochemical Only) |
|---|---|---|
| Diagnostic Precision | Single-nucleotide variant & indel resolution via NGS | Plasma/urine organic acid profiling — non-specific |
| Methodology | Next Generation Sequencing (Full Gene Coverage) | GC-MS / Tandem Mass Spectrometry |
| Turnaround Time | 3–4 Weeks (Definitive Molecular Report) | 5–10 Days (Suggestive, Requires Genetic Confirmation) |
Physician Insight & Safety Protocol
"As a clinician with decades of experience in metabolic genetics, I emphasize that the DHTKD1 NGS test provides critical molecular clarity — but results must always be interpreted within the full clinical context. A negative report does not exclude all inborn errors of metabolism, and a positive finding should prompt immediate cascade screening and metabolic specialist referral. Your physician remains your most important partner in this diagnostic journey."
— Dr. PRABHAKAR REDDY, DHA License: 61713011, Clinical Genetic & Metabolic Disorders Consultant
Safety Exclusion Criteria & Important Clinical Notices
- Medication Continuity: Do not discontinue any prescribed medication, supplement, or metabolic formula without explicit instruction from your treating physician.
- Acute Illness: Patients currently experiencing acute metabolic decompensation, severe vomiting, or altered consciousness require emergency stabilization prior to elective genetic sampling.
- Minors & Consent: In full compliance with UAE CDS Law 2026, all minors must have documented informed consent from a legal guardian. Genetic counseling is mandatory prior to sample collection for pediatric patients.
- Sample Integrity: Hemolyzed, clotted, or improperly stored whole-blood specimens will be rejected. FTA card samples must be fully dried at ambient temperature before submission.
Emergency Red Flags — Seek Immediate Medical Attention
If the patient experiences: sudden developmental regression, unexplained seizures, acute hypotonia, persistent metabolic acidosis (Kussmaul breathing), or encephalopathic changes — proceed to the nearest emergency department immediately. Inform the treating team of the suspected metabolic disorder and pending genetic test results.
Patient FAQ & Clinical Guidance
Q1: What does the DHTKD1 gene test diagnose, and how long do results take?
This NGS test definitively identifies pathogenic mutations in the DHTKD1 gene responsible for 2-aminoadipic 2-oxoadipic aciduria, a rare autosomal recessive metabolic disorder affecting lysine degradation. Results are typically delivered within 3 to 4 weeks from sample receipt. The report includes variant classification (ACMG guidelines), zygosity status, and clinical correlation recommendations for your referring physician. Expedited processing is available for acutely symptomatic patients upon geneticist request.
Q2: Can I use my health insurance to cover the 2800 AED cost of this genetic test?
Many UAE-based insurance plans now include coverage for medically indicated genetic testing when accompanied by a valid physician referral and pre-authorization documentation from a DHA-licensed metabolic specialist or clinical geneticist. Our billing team verifies your coverage directly with insurers before sample collection. Contact our WhatsApp support at +971 54 548 8731 with your policy number for a complimentary benefits verification within 2 business hours.
س3: هل يمكن إجراء هذا التحليل الجيني للأطفال الرضع وما هي متطلبات الموافقة؟
نعم، يمكن إجراء تحليل جين DHTKD1 للرضع والأطفال باستخدام عينة دم وريدي أو بطاقة FTA، شريطة الحصول على موافقة مستنيرة موقعة من الوالدين أو الوصي القانوني. وفقاً لقانون البيانات الصحية الشخصية في الإمارات والمرسوم بقانون اتحادي رقم 41 لسنة 2024، يجب توثيق جلسة استشارة وراثية كاملة قبل سحب العينة، مع رسم شجرة النسب العائلية لتحديد أفراد الأسرة المتأثرين أو الحاملين للمرض. الحد الأدنى لحجم العينة للرضع هو 0.5 مل من الدم الكامل.
Pre-Test Requirements & Sample Collection Protocol
Mandatory Pre- Genetic Counseling
All patients must complete a comprehensive genetic counseling session prior to sample collection. This session includes: construction of a three-generation pedigree chart documenting family members affected with 2-aminoadipic 2-oxoadipic aciduria or unexplained metabolic symptoms; discussion of autosomal recessive inheritance patterns; explanation of possible variant classifications (pathogenic, likely pathogenic, VUS, likely benign, benign); and psychosocial support regarding potential findings.
Accepted Sample Types
- Whole Blood (EDTA): 3–5 mL collected in a lavender-top tube. Invert gently 8–10 times. Transport at 2–8°C within 24 hours.
- Extracted DNA: Minimum 2 µg at concentration ≥50 ng/µL in TE buffer. A260/A280 ratio: 1.8–2.0.
- Dried Blood Spot (FTA Card): One fully saturated circle. Air-dry completely at ambient temperature for minimum 3 hours before packaging. Avoid direct sunlight and humidity.
Note: Patients are not required to fast. Continue all prescribed medications and metabolic supplements unless specifically instructed otherwise by the referring physician. Avoid sample collection during acute febrile illness when possible.
Regulatory Compliance & Accreditation
ISO 9001:2015 Certified
Cert: INT/EGQ/2509DA/3139 — Encompassing all pre-analytical, analytical, and post-analytical NGS workflows.
UAE Federal Decree-Law No. 41 of 2024
Full compliance with Article 87 governing genetic data confidentiality, patient consent, and secondary use restrictions.
UAE PDPL & CDS Law 2026
Personal Data Protection Law adherence. Enhanced safeguards for minors and vulnerable populations per Consumer Data Security mandates.
Facility License: 9834453 | DHA-Regulated Molecular Pathology Laboratory | All reports reviewed by DHA-licensed clinical geneticists.
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