Test Price
250 AED✅ Home Collection Available
Galactosemia Classical (GALT Enzyme) Quantitative Blood Test – Dubai, UAE
Executive Summary & Core Metrics
Diagnostic accuracy exceeding 99.9 percent for classical galactosemia confirmation via quantitative GALT enzyme activity measurement in erythrocytes. This test is performed at a DHA-licensed, ISO 9001:2015 certified laboratory facility. VIP mobile phlebotomy and temperature-controlled cold-chain home collection are available daily from 8 AM to 11 PM. Post-result telephonic clinical guidance by a Consultant Medical Genetics is included. Price: 250 AED. Insurance pre-approval support via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The GALT Enzyme Quantitative Blood Test measures galactose-1-phosphate uridyltransferase activity in red blood cells, establishing a definitive enzymatic diagnosis for classical galactosemia (OMIM 230400). This assay is indicated for confirming abnormal newborn screening results, evaluating infants presenting with unconjugated hyperbilirubinemia, poor feeding, or hepatomegaly, and guiding lifelong dietary galactose restriction. The quantitative result differentiates classical galactosemia from milder variants such as Duarte galactosemia.
| Feature | Our Test (GALT Enzyme Activity) | Nearest Alternative (Newborn DBS Screen) |
|---|---|---|
| Precision | Quantitative enzyme activity in RBCs (diagnostic gold standard) | Semi-quantitative / qualitative screen |
| Methodology | Enzyme Activity Assay (Erythrocyte GALT) | Fluorometric or tandem mass spectrometry on dried blood spot |
| Turnaround Time | 5 days (reported daily by 4 pm) | 1–2 days (screening only) |
| Regulatory Status | DHA/MOHAP Accredited, ISO 9001:2015 | Varies by facility |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Classical galactosemia is a potentially lethal inborn error of galactose metabolism. Quantitative GALT enzyme assay remains the confirmatory gold standard following a positive newborn screen. I advise clinicians to obtain this test urgently in any neonate with unexplained jaundice, vomiting, or Escherichia coli sepsis. Early enzymatic diagnosis coupled with immediate dietary galactose elimination significantly reduces morbidity and mortality. Genetic counseling for at-risk family members is also strongly recommended.
Advisory Guidelines for Safe Testing
Important Precautions
Do not discontinue any prescribed medication or specialized galactose-free dietary formula without direct consultation with your treating physician. This laboratory test is designed to support clinical diagnosis and management; it is not a substitute for emergency medical evaluation. Any sudden worsening of symptoms requires immediate hospital attendance.
Exclusion Criteria & Emergency Red Flags
Contraindications for Sample Collection
- Blood transfusion within the preceding 60 days may falsely normalize erythrocyte GALT activity.
- Inability to obtain a minimum of 4 mL of whole blood from a peripheral venous access.
- Concurrent use of medications known to interfere with GALT enzyme measurement – provide a complete drug history.
- Seek emergency medical care immediately if the infant exhibits severe vomiting, persistent jaundice, lethargy, refusal to feed, or signs of hepatic encephalopathy. Do not wait for laboratory results.
Patient FAQ & Clinical Guidance
1. What is the Galactosemia Classical (GALT) Quantitative Blood Test?
This test quantifies the activity of galactose-1-phosphate uridyltransferase enzyme in red blood cells to diagnose classic galactosemia. It directly measures the amount of functioning GALT enzyme, the deficiency of which causes toxic accumulation of galactose-1-phosphate. A result below the normal threshold (method-dependent) confirms the diagnosis and differentiates classical galactosemia from milder variants. Genetic confirmation via GALT gene sequencing may be recommended in selected cases.
2. Why might a doctor order this test for my child?
To confirm suspected galactosemia when newborn screening is abnormal or in infants with jaundice, vomiting, and failure to thrive. It is also indicated for siblings of affected children, to guide dietary management, and in older patients presenting with cataracts, developmental delay, or ovarian dysfunction. A definitive enzymatic diagnosis enables precise medical nutrition therapy and informs lifelong surveillance for long-term complications.
3. Are there any special preparations required before sample collection?
Avoid blood collection within 60 days after a transfusion and provide full clinical and drug history to avoid inaccurate results. No fasting is required. The sample must be collected in a sodium heparin (green-top) tube, kept refrigerated at 2-8 degrees Celsius, never frozen, and transported with a completed requisition detailing recent medications, transfusion history, and clinical symptoms. Our DHA-licensed phlebotomists manage the cold-chain logistics during home collection.
UAE Regulatory & Data Privacy Adherence
Regulatory & Accreditation Compliance
This diagnostic service fully complies with 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 procedures are performed under the framework of Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory is ISO 9001:2015 certified and operates under DHA Facility License No. 1143.
For insurance pre-approval, send your policy details via WhatsApp at +971 54 548 8731. Post-result telephonic clinical guidance by a Consultant Medical Genetics is included with every test.
Clinical & Logistical Metadata
| Test Name | Galactosemia Classical (GALT Enzyme) Quantitative Blood Test |
| Price (AED) | 250 |
| Turnaround Time | 5 Business Days |
| Sample Type / Matrix | Whole blood (sodium heparin tube, refrigerated cold-chain transport) |
| Methodology Used | Quantitative Enzyme Activity Assay (Erythrocyte GALT) |
| ICD-10-CM Code | E74.21 |
| LOINC Code | 22774-2 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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