Test Price
320 AED✅ Home Collection Available
Galactosemia (Epimerase) Quantitative Blood Test in UAE | 320 AED | DNA Labs UAE
Executive Summary & Core Metrics
DNA Labs UAE offers the Galactosemia (Epimerase) Quantitative Blood Test with a diagnostic accuracy exceeding 99.9% through ISO 9001:2015 accredited processing. This enzyme activity assay measures UDP-galactose 4-epimerase (GALE) levels in red blood cells to confirm or exclude galactosemia type III, a rare inborn error of metabolism. Our service includes VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM, post-test telephonic clinical guidance, and direct insurance verification via WhatsApp at +971 54 548 8731. All procedures comply with 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.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM–11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance for Result Interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The Galactosemia (Epimerase) Quantitative Blood Test measures UDP-galactose 4-epimerase (GALE) enzyme activity in red blood cells using a spectrophotometric enzyme activity assay. This quantitative analysis is the definitive diagnostic method for confirming galactosemia type III, a rare autosomal recessive disorder of galactose metabolism. Early and accurate diagnosis is critical to prevent hepatic dysfunction, cataracts, and neurodevelopmental delay in affected infants. The assay is performed at our ISO 9001:2015 accredited laboratory under strict quality control protocols, including internal controls and external proficiency testing to ensure 99.9% diagnostic sensitivity.
| Feature | DNA Labs UAE Galactosemia (Epimerase) Test | Closest Alternative |
|---|---|---|
| Methodology | Enzyme Activity Assay (Spectrophotometric), ISO 9001:2015 Laboratory | Standard hospital enzyme assay with variable protocols |
| Diagnostic Sensitivity | 99.9% with rigorous internal QC and external proficiency testing | 95–98%, variable between facilities |
| Turnaround Time | 5 working days (sample accepted daily by 4 PM) | 7–14 days typical |
| Home Collection | Yes – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Service (8 AM–11 PM) | Rarely available; often requires hospital visit |
Physician Insight & Safety Protocols
"When evaluating an infant with suspected galactosemia, the quantitative epimerase enzyme assay provides definitive biochemical evidence to confirm or exclude type III deficiency. As a Consultant Medical Genetics, I emphasize that this result must be interpreted alongside newborn screening data, dietary history, and clinical examination. Parents should never modify or discontinue any prescribed dietary restrictions or medications without direct consultation with their child's metabolic specialist or pediatrician."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
⚠️ Medication & Dietary Safety Advisory
Do not discontinue prescribed dietary restrictions, lactose/galactose avoidance, or any medications without consulting your child's metabolic specialist.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Blood sample collection within 60 days after a transfusion – results will be invalid.
- Exclusion: Incomplete clinical history or medication list submitted with sample – test interpretation may be compromised.
- Red Flag: Acute onset of jaundice, lethargy, vomiting, or hypoglycemia – seek immediate emergency care.
- Red Flag: Clinical signs of sepsis (fever, poor feeding, irritability) in an infant with suspected galactosemia.
Patient FAQ & Clinical Guidance
1. Why is the Galactosemia (Epimerase) test important for my infant?
This quantitative test measures GALE enzyme activity in red blood cells to confirm or exclude galactosemia type III, a rare genetic metabolic disorder. Untreated galactosemia can lead to progressive liver damage, cataract formation, and irreversible neurodevelopmental delay. Early diagnosis through this enzyme assay enables prompt dietary intervention and specialist metabolic follow-up, significantly improving long-term outcomes for affected infants.
2. How should I prepare my child for this blood test?
No fasting is required. Ensure that no blood transfusion has been received within the 60 days prior to collection. Provide a complete list of all medications, supplements, and dietary modifications with the sample. The specimen must be collected in a sodium heparin (green-top) tube, kept refrigerated at 2–8°C, and transported to the laboratory on the same day. Our VIP Mobile Phlebotomy team manages all collection logistics to maintain sample integrity throughout the cold chain.
3. What do the results mean and what are the next steps?
Low or absent epimerase enzyme activity confirms galactosemia type III and necessitates immediate dietary intervention and consultation with a metabolic genetics specialist. A normal result effectively excludes this specific enzyme deficiency. Your child's metabolic specialist will integrate the enzyme assay result with newborn screening findings, clinical symptoms, and, if indicated, molecular genetic testing to formulate a comprehensive long-term management plan.
4. Can this test be performed on an infant who has already started dietary treatment?
Yes, the test can be performed after dietary intervention has begun, but the clinical history including any dietary modifications must be clearly documented with the sample. Results must be interpreted in the context of ongoing treatment. The enzyme activity level may be influenced by the degree of galactose restriction, so correlation with clinical status and newborn screening results is essential for accurate diagnosis.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance & Data Protection Framework
DNA Labs UAE operates under DHA Facility License No. 1143 and strictly adheres to the following UAE federal regulations governing clinical laboratory practice and patient data protection:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the processing, storage, and safeguarding of personal health information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – regulating digital health records, telemedicine, and electronic data exchange.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing the legal framework for clinical practice standards, patient consent, and procedural safety.
All laboratory procedures are performed at our accredited facility located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. For insurance verification and billing inquiries, contact us via WhatsApp at +971 54 548 8731, available daily from 8 AM to 11 PM.
Clinical & Logistical Metadata
| Test Name | Galactosemia (Epimerase) Quantitative Blood Test |
| Price (AED) | 320 AED |
| Turnaround Time | 5 working days (sample accepted daily by 4 PM) |
| Sample Type / Matrix | Whole blood (4 mL, minimum 2 mL) in Sodium Heparin (Green-Top) tube. Keep refrigerated at 2–8°C; do not freeze. Avoid collection within 60 days post-transfusion. |
| Methodology Used | Spectrophotometric Enzyme Activity Assay (UDP-galactose 4-epimerase / GALE). ISO 9001:2015 accredited. |
| ICD-10-CM Code | E74.29 (Other disorders of galactose metabolism) |
| LOINC Code | 23849-3 (Galactose-4-epimerase [Enzymatic activity] in Red Blood Cells) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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