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Test Price

950 AED

✅ Home Collection Available

Mucopolysaccharidosis (MPS) Type I (Hurler Syndrome) Quantitative Blood Test in UAE | 950 AED

Executive Summary & Core Metrics

Executive Summary & Clinical Guarantee

Diagnostic Precision: 99.9% Analytical Sensitivity via ISO 15189-accredited fluorimetric enzyme assay with LC-MS/MS confirmatory reflex.
Premium Logistics: Hospital-Grade Home Collection via ISO Certified Cold-Chain transport (2-8°C). VIP Mobile Phlebotomy available 8 AM–11 PM, 7 days.
Clinical Guidance: Complimentary post-test telephonic clinical correlation session with senior laboratory scientist.
Insurance & Billing: Direct Billing Verification via WhatsApp at +971 54 548 8731. Pre-authorization support included.

Test Overview & Methodology

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.

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 & Safety Protocols

Lina Osama Zaki Quteineh — Consultant Medical Genetics, DHA Registration ID: 9294403

"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 Advisory

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.

Patient FAQ & 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.

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.

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-diagnosis 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.

UAE Regulatory & Data Privacy Adherence

Regulatory Compliance: This laboratory service operates under UAE Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. All clinical testing and patient consent procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.

Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). All enzymatic assays meet DHA/MOHAP proficiency testing requirements.

Clinical & Logistical Metadata

Test Name MPS Type I (Hurler Syndrome) Quantitative Enzyme Activity
Price (AED) 950
Turnaround Time 4 Days (Sample received daily by 4 PM)
Sample Type / Matrix Whole Blood (Leukocytes) — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM)
Methodology Used Quantitative Fluorimetric Enzyme Assay (4-MU Substrate) + LC-MS/MS Confirmatory Reflex
ICD-10-CM Code E76.01, E76.0, Z14.8
LOINC Code 55846-5
DHA Facility License & Laboratory Address DHA License No: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE

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