Test Price
1,800 AED✅ Home Collection Available
Advanced Inborn Errors of Metabolism (IEM) Extended Panel in UAE | 1800 AED | 2026 DHA Guidelines
تحليل لوحة الأخطاء الأيضية الخلقية الموسع المتقدم في الإمارات | 1800 درهم | معتمد من هيئة الصحة بدبي 2026
Executive Summary & Precision Guarantee
ملخص تنفيذي: يوفر هذا الفحص المتقدم باستخدام قياس الطيف الكتلي الترادفي (Tandem Mass Spectrometry) وكروماتوغرافيا الغاز تحديدًا دقيقًا وشاملاً للاضطرابات الأيضية الوراثية النادرة لدى الأطفال والبالغين في دولة الإمارات. بدعم من استشاريينا التخصصيين وبروتوكول سلسلة التبريد المعتمد من الآيزو، نضمن أعلى معايير الدقة والموثوقية للتدخل العلاجي المبكر.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain, available 8 AM - 11 PM, including VIP Mobile Phlebotomy.
- Clinical Guidance: Complimentary Telephonic Post-Test Clinical Guidance for result interpretation with our experts.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Overview: A Deep Biochemical Phenotype
The Advanced IEM Extended Panel analyzes over 100 metabolic analytes in blood and urine using tandem mass spectrometry and GC-MS, providing a definitive biochemical phenotype for suspected inborn errors of metabolism. (يقوم هذا التحليل بتقييم شامل للأحماض الأمينية والأحماض العضوية ودورة الكارنيتين لتشخيص الأمراض الاستقلابية الوراثية). It is the gold standard for differential diagnosis in neonatal screening, unexplained developmental delay, and adult-onset metabolic crisis.
| Feature | Our Advanced IEM Extended Panel | Closest Alternative (Standard Newborn Screen) |
|---|---|---|
| Analytical Method | Tandem Mass Spectrometry (TMS) + GC/MS + Enzyme Assay | Tandem Mass Spectrometry (TMS) only |
| Diagnostic Coverage | 100+ analytes; Amino acids, acylcarnitines, organic acids, purines/pyrimidines | ~40 core analytes; limited to acylcarnitine and amino acid profiles |
| Clinical Utility | Diagnostic confirmation, differential diagnosis for all ages, sports science & functional medicine insights | Primarily a first-tier screening tool for newborns |
| Report Turnaround | 3 Days | 5-10 Days |
Physician Insight & Safety Protocol
"Interpreting an extended metabolic panel requires deep clinical correlation; a mildly elevated C5-OH acylcarnitine could be a transient finding or signify a life-threatening organic aciduria. As your physician, I integrate this biochemical fingerprint with your child's growth curve, feeding history, and neurological examination—never relying on a single value in isolation. My commitment is to demystify these complex pathways and guide you clearly toward the most effective, evidence-based intervention."
— Dr. PRABHAKAR REDDY, Specialist Pediatrician | DHA License: 61713011
Critical Medication Advisory
Do not discontinue, adjust, or pause any prescribed medication, including anti-epileptic drugs (like valproic acid) or carnitine supplements, prior to this test without explicit consultation with your managing physician. Abrupt changes can precipitate a metabolic crisis or severe clinical deterioration.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria for Home Collection: Infants or adults currently in an acute metabolic crisis (encephalopathy, intractable vomiting, severe hypoglycemia) require immediate hospital-based emergency care, not a scheduled home draw.
- ER Red Flags: If the patient develops lethargy, tachypnea (Kussmaul breathing), seizures, or loss of consciousness after the sample is collected, proceed immediately to the nearest emergency department and inform the ER physician that metabolic testing is pending.
Patient FAQ & Clinical Guidance
1. What exactly does the "Extended IEM Panel" detect that a regular blood test cannot?
This advanced panel utilizes tandem mass spectrometry to quantitatively measure minute concentrations of specific amino acids, acylcarnitines, and organic acids that accumulate due to inherited enzyme deficiencies, thereby detecting over 60 treatable conditions like Phenylketonuria, Maple Syrup Urine Disease, and Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency, which are invisible on standard chemistry panels. (يقيس هذا الفحص بدقة عالية المستقلبات الوسيطة للكشف عن أمراض لا تظهر في التحاليل الروتينية).
2. My newborn already had a heel-prick test; why is this comprehensive panel necessary for my older child?
Newborn screening is a high-sensitivity, rapid test designed to catch only a specific subset of severe, early-onset forms of IEM, while this diagnostic-grade extended panel maps the full biochemical pathway, identifying milder variants, late-onset presentations, and disorders like X-linked Adrenoleukodystrophy or Lysosomal Storage Diseases that manifest later in childhood with developmental regression or behavioral changes. (فحص حديثي الولادة الأولي هو أداة مسح سريع، بينما توفر هذه اللوحة الموسعة خريطة تشخيصية كاملة ودقيقة للحالات متأخرة الظهور).
3. How should I prepare my child for the blood and urine collection to ensure accurate results?
Accurate diagnosis mandates collecting the dried blood spots and urine sample while the child is metabolically stressed, ideally after a brief fasting period of 4-6 hours (or as tolerated) and before administering any emergency medications, while ensuring complete documentation of all dietary formulas, supplements, and drug history accompanies the sample to our ISO-certified laboratory. (يجب جمع العينات أثناء وجود الطفل تحت ضغط أيضي خفيف، مع توثيق كامل للأدوية والنظام الغذائي لضمان دقة التحليل).
Test Compendium & Logistics
- 2026 ICD-10-CM Codes
-
E70.0 Classic Phenylketonuria
E71.1 Disorders of branched-chain amino acid metabolism (e.g., MSUD)
Z13.228 Encounter for screening for other metabolic disorders - LOINC Code
- 49289-7 — Acylcarnitine & Amino Acids Panel - DBS
- Primary Specialists
- Pediatricians, Neonatologists, Functional Medicine Practitioners
- Methodology
- Tandem Mass Spectrometry (LC-MS/MS), Gas Chromatography/Mass Spectrometry (GC/MS), Enzyme Assay
- Sample & Pre-Test Instructions
-
Collection Kit:
1 drop of heel/finger prick blood on 3 spots of filter paper (available from LPL) AND 2 mL (1 mL min.) serum from 1 SST OR 2 mL (1 mL min.) plasma from 1 Green Top (Sodium Heparin) tube AND 15 mL (10 mL min.) random urine.Critical Pre- Information:
- Clinical details and complete drug/supplement history must accompany the sample. Formulate a precise list of all medications, including anti-epileptics, antibiotics, and carnitine supplements.
- Ship refrigerated (2-8°C) or frozen immediately. Do not freeze whole blood in SST tubes.
- TAT & Price
- Sample collection Mon-Sat by 9 AM
Report in 3 Days
Price: 1,800 AED
DHA/MOHAP Standard Nomenclature:
Inborn Errors of Metabolism Comprehensive Panel — Quantitative, TMS/GC-MS
Facility License: 9834453 | ISO 9001:2015 Cert: INT/EGQ/2509DA/3139 | Compliance: Federal Decree-Law No. 41 of 2024 (Art. 87), UAE CDS Law 2026 (Minors), UAE PDPL
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