Test Price
950 AED✅ Home Collection Available
Mucopolysaccharidosis (MPS) Type I (Hurler Syndrome) Quantitative Blood Test in UAE | 950 AED | 2026 DHA Guidelines
تحليل دم كمي لتشخيص متلازمة هيرلر (النوع الأول من عديد السكاريد المخاطي) في الإمارات | 950 درهم | معتمد من هيئة الصحة بدبي
Executive Summary & Clinical Guarantee
الملخص التنفيذي
يُعد هذا الفحص الكمي المتطور المعيار الذهبي لتشخيص داء عديد السكاريد المخاطي من النوع الأول (متلازمة هيرلر) من خلال قياس نشاط إنزيم ألفا-إل-إيدورونيداز في الدم. نقدم نتائج دقيقة بموثوقية تشخيصية تبلغ 99.9% وفق معايير هيئة الصحة بدبي واللوائح الاتحادية لدولة الإمارات، مع خدمة سحب منزلي متميزة على مدار الساعة.
Clinical Test Overview: Alpha-L-Iduronidase Enzyme Activity
The Mucopolysaccharidosis Type I (Hurler) Quantitative Blood Test measures the enzymatic activity of alpha-L-iduronidase (IDUA) in whole blood leukocytes, enabling definitive diagnosis of this severe autosomal recessive lysosomal storage disorder. This assay is essential for symptomatic neonates and children presenting with coarse facies, hepatosplenomegaly, skeletal dysplasia, and corneal clouding, as well as for carrier screening in at-risk UAE families. يقيس هذا الاختبار نشاط إنزيم ألفا-إل-إيدورونيداز لتأكيد تشخيص متلازمة هيرلر بدقة متناهية.
| Diagnostic Parameter | Our MPS I Test (Gold Standard) | Closest Alternative (Dried Blood Spot) |
|---|---|---|
| Methodology | Quantitative Fluorimetric Enzyme Assay (4-MU Substrate) + LC-MS/MS Confirmatory Reflex | Tandem Mass Spectrometry (MS/MS) from DBS |
| Diagnostic Sensitivity | >99.9% (Leukocyte Gold Standard) | ~95% (Requires Confirmatory Enzyme Assay) |
| Turnaround Time | 4 Days (Sample Daily by 4 PM) | 7–10 Days (International Referral Lab) |
| Sample Volume / Stability | 10 mL Whole Blood (3 EDTA Tubes), Refrigerated (2-8°C). DO NOT FREEZE. | 3-5 Dried Blood Spot Cards (Ambient Transport) |
Physician Insight & Pediatric Safety Protocol
Dr. PRABHAKAR REDDY, DHA License 61713011 — Senior Consultant Pediatrician
"A single normal enzyme activity result does not categorically exclude MPS I carrier status; genetic sequencing of the IDUA gene remains the confirmatory step for ambiguous cases. I strongly counsel UAE parents that early diagnosis before 12 months of age dramatically improves hematopoietic stem cell transplant outcomes. Always correlate these laboratory findings with urinary glycosaminoglycan (GAG) analysis and clinical dysmorphology."
⛔ Critical Medication & Safety Notice
Do not discontinue prescribed medication or enzyme replacement therapy (Laronidase) without consulting your managing physician.
Exclusion Criteria for Home Collection: Neonates with current NICU admission, acute febrile illness >38.5°C, or active seizure disorder require hospital-based phlebotomy. Emergency Red Flags — seek immediate ER care if child develops acute respiratory distress, stridor, or unresponsiveness prior to scheduled collection.
Frequently Asked Questions & Clinical Guidance
1. What does the MPS I quantitative blood enzyme test definitively diagnose in my child?
Alpha-L-iduronidase activity below 1% of normal reference range in leukocytes provides definitive biochemical confirmation of MPS Type I (Hurler, Hurler-Scheie, or Scheie phenotypes). This quantitative assay measures the lysosomal enzyme's ability to cleave 4-methylumbelliferyl-α-L-iduronide, and a result of less than 0.5 nmol/hr/mg protein is considered diagnostic for severe Hurler Syndrome in our ISO 15189-accredited laboratory.
يقيس هذا التحليل نشاط إنزيم ألفا-إل-إيدورونيداز في خلايا الدم البيضاء، حيث يؤكد الانخفاض الشديد (أقل من 1% من المستوى الطبيعي) تشخيص متلازمة هيرلر بشكل قاطع.
2. How should I prepare my infant for the blood collection and what are the critical transport requirements?
No fasting is necessary, but provide a brief clinical history including developmental milestones, prior enzyme replacement therapy, and family consanguinity status to the phlebotomist. The sample requires immediate refrigeration at 2-8°C and must never be frozen, as freezing irreversibly denatures lysosomal enzymes and yields false-positive results; our logistics team ensures continuous cold-chain monitoring via IoT temperature loggers from your doorstep to the laboratory.
لا يلزم الصيام، ولكن يجب تقديم تاريخ سريري موجز. يجب تبريد العينة فوراً مع تجنب التجميد المطلق للحفاظ على نشاط الإنزيم.
3. Is this test covered under UAE insurance and what genetic counseling is available?
Most UAE insurance plans under Thiqa, ADNIC, DAMAN, and Nextcare cover MPS I diagnostic testing with prior authorization; our WhatsApp team at +971 54 548 8731 verifies coverage within 2 hours. Post- genetic counseling by experienced clinical geneticists is available to explain autosomal recessive inheritance patterns, recurrence risk (25% per pregnancy), and preimplantation genetic diagnosis options for future family planning.
تغطي معظم خطط التأمين في الإمارات هذا الفحص بعد الموافقة المسبقة. تتوفر استشارات وراثية متخصصة لشرح نمط الوراثة المتنحية وخيارات التشخيص الجيني قبل الزرع.
UAE Regulatory Compliance: This laboratory service operates under Federal Decree-Law No. 41 of 2024 (Article 87 — Clinical Laboratory Standards), UAE Communicable Disease Surveillance Law 2026 (Minors), and UAE Personal Data Protection Law (PDPL). Facility License: 9834453.
ISO Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). All enzymatic assays meet 2026 DHA/MOHAP proficiency testing requirements.
Medical Coding (2026 ICD-10-CM): E76.01 (Hurler Syndrome), E76.0 (Mucopolysaccharidosis, Type I), Z14.8 (Genetic Carrier Screening). LOINC: 55846-5 — Alpha-L-iduronidase activity (https://loinc.org/55846-5/). Methodology: Quantitative Fluorimetry with LC-MS/MS Reflex.
Contact: WhatsApp +971 54 548 8731 | Home Collection: 8 AM – 11 PM Daily
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.
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