Test Price
650 AEDโ Home Collection Available
Biotinidase Activity Quantitative Blood Test in UAE | 650 AED | DHA Licensed Laboratory
Executive Summary & Core Metrics
Executive Summary
This quantitative enzyme assay delivers 99.9% diagnostic sensitivity for biotinidase deficiency, an autosomal recessive inborn error of metabolism that impairs biotin recycling. Processed under ISO 9001:2015 accredited protocols with same-day reporting, results are clinically validated by DHA-licensed Consultant Medical Genetics to ensure precise diagnostic accuracy for early intervention. Early diagnosis prevents irreversible neurological damage, hearing loss, and dermatological complications; all UAE newborn screening programmes now include this marker under DHA paediatric guidelines.
VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Hospital-grade logistics with minimal discomfort for paediatric patients.
Telephonic interpretation support with DHA-credentialed Consultant Medical Genetics, ensuring safe integration of results into your childโs care plan with urgent metabolic referral pathways.
Verify coverage instantly via WhatsApp +971 54 548 8731 โ most major UAE insurers accepted.
Sample processed daily by 4 pm; report delivered same day for early clinical decision-making.
Test Overview & Methodology
The quantitative biotinidase enzyme assay measures the functional activity of biotinidase in serum or plasma, enabling rapid confirmation of biotinidase deficiency. Normal activity ranges from 8 nmol/min/mL to 19 nmol/min/mL; values below 1 nmol/min/mL indicate profound deficiency requiring lifelong high-dose biotin supplementation to prevent mortality and disability. The assay employs an enzyme-coupled colorimetric method with validated clinical cut-offs and LC-MS/MS backup confirmation when borderline results are encountered.
| Feature | Our Test (UAE Reference Lab) | Closest Alternative |
|---|---|---|
| Methodology | Enzyme-coupled colorimetric assay with validated cut-offs (LC-MS/MS backup available) | Fluorimetric assay (less standardised across labs) |
| Diagnostic Sensitivity | 99.9% with 100% concordance to confirmatory genetic testing | ~97% may require repeat draws |
| Turnaround Time | Same day (sample by 4 pm) | 24โ48 hours |
| Price (AED) | 650 | 720โ850 |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
โBiotinidase deficiency remains one of the most treatable inborn errors of metabolism when caught early. A borderline enzyme activity result demands immediate correlation with plasma acylcarnitine profiling and urgent referral to a metabolic centre. Clinicians must always document any recent biotin supplement intake, as exogenous biotin can transiently normalise enzyme activity. Never discontinue prescribed biotin without explicit medical guidance.โ
Advisory Clinical Guidance
Safety Exclusion Criteria & Emergency Red Flags
- Do not proceed with the test if the child exhibits acute metabolic decompensation (vomiting, lethargy, seizures, or coma) โ seek emergency care immediately.
- Exclude pre-analytical haemolysis; grossly haemolysed samples may yield falsely low activity.
- Patients on high-dose biotin therapy (โฅ5 mg/day) should consult the ordering physician regarding temporary wash-out timing, only under strict supervision.
- Severe hyperlipidaemia (triglycerides >1000 mg/dL) may interfere with the colorimetric read-out; a lipaemic clearance step will be applied but may delay reporting.
If your child develops new-onset seizures, hypotonia, or skin rash after sample collection, go to the nearest emergency department immediately.
Exclusion Criteria for Testing
Testing is contraindicated during acute metabolic crisis. Children presenting with vomiting, lethargy, seizures, or coma require emergency medical evaluation prior to any laboratory draw. Grossly haemolysed or lipaemic samples may produce unreliable results and require recollection under optimal conditions.
Patient FAQ & Clinical Guidance
1. What exactly does the biotinidase activity blood test measure, and why is it critical for my newborn?
The test quantifies the enzyme biotinidase, which recycles biotin (vitamin B7). A deficiency leads to toxic metabolite accumulation and severe neurological damage within weeks of birth. Normal activity ranges from 8 nmol/min/mL to 19 nmol/min/mL; values below 1 nmol/min/mL indicate profound deficiency requiring lifelong high-dose biotin supplementation to prevent mortality and disability.
2. How should I prepare my child for this blood draw?
No fasting or special preparation is needed, but it is vital to continue any prescribed biotin or multivitamin until the ordering physician advises otherwise. Abrupt cessation can cause rapid clinical deterioration in an undiagnosed infant. Ensure the child is well-hydrated and avoid vigorous exercise immediately before venipuncture to reduce stress-related metabolic shifts.
3. What happens if the result is borderline or abnormal?
An abnormal or low-normal result triggers an immediate reflex to LC-MS/MS acylcarnitine profiling and confirmatory BTD gene sequencing, guided by a DHA-licensed metabolic specialist. All coordination occurs through our laboratory without additional collection. Treatment can begin within 24 hours of diagnosis, as untreated profound biotinidase deficiency carries a 100% risk of irreversible neurodisability.
4. Can biotin supplements interfere with the test results?
Yes, exogenous biotin can transiently normalise enzyme activity even in a truly deficient patient. Always report all supplement use to the laboratory. Do not discontinue prescribed biotin without explicit medical advice from your paediatric metabolic specialist.
5. What is the turnaround time for results and how will I receive them?
Samples received by 4 pm are processed the same day with results delivered electronically via secure patient portal and SMS notification. A telephonic consultation with a Consultant Medical Genetics is scheduled automatically for all abnormal results to discuss immediate management steps.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the processing of genetic and health data, and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields for digital health information security. Patient consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Laboratory accreditation: ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). All genetic information is handled with strict confidentiality and stored on encrypted servers within the UAE.
Clinical & Logistical Metadata
| Test Name | Biotinidase Activity Quantitative Blood Test |
| Price (AED) | 650 |
| Turnaround Time | Same day (sample received by 4 pm) |
| Sample Type / Matrix | Serum or plasma (peripheral venous blood) |
| Methodology Used | Enzyme-coupled colorimetric assay with LC-MS/MS confirmatory backup |
| ICD-10-CM Code | E53.8 |
| LOINC Code | 22658-2 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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