Biochemistry
Inborn Errors of Metabolism Tests in Dubai & UAE
Investigations in this area, with the specimen type, turnaround time and listed price for each option — so you and your clinician can compare before you book.
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Inborn Errors of Metabolism investigations
All 11 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| Alcaptonuria Urine Qualitative Test TEST-144 LOINC 2751-9 | This test qualitatively detects homogentisic acid in urine, serving as a screening tool for the metabolic disorder alkaptonuria. | Urine (midstream, light-protected) | Same day (within 24 hours) | 700.00 AED | Details |
| Amino Acids, Maple Syrup Urine Disease (MSUD) Panel (Plasma) Test TEST-187 LOINC 51063-6 | This diagnostic test evaluates plasma levels of branched-chain amino acids (leucine, isoleucine, valine) to identify imbalances characteristic of Mapl... | Plasma (Peripheral Blood) | 3 working days | 850.00 AED | Details |
| BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test TEST-6040 LOINC 21638-3 | This test identifies pathogenic variants in the BCKDHB gene to confirm a diagnosis of Maple Syrup Urine Disease (MSUD) type 1b. | Whole Blood, Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| Canavan Disease (Aspartoacylase Deficiency) Screening Test, Urine TEST-519 LOINC 22690-4 | This diagnostic test evaluates for Canavan disease by quantifying N-acetylaspartic acid (NAA) levels in urine. | Urine (random void) | 5 working days | 650.00 AED | Details |
| Fabry Disease Quantitative Blood Test TEST-1087 LOINC 33330-0 | This diagnostic test evaluates the activity level of the alpha-galactosidase A enzyme in whole blood. | Whole Blood | 4 Business Days (Sample received by 4 pm daily) | 600.00 AED | Details |
| Galactosemia Panel 2 Test TEST-1284 LOINC 74520-7 | This diagnostic test evaluates for inborn errors of galactose metabolism, specifically classic galactosemia, Duarte variant, and galactokinase deficie... | Blood (Plasma) | 5 Working Days | 600.00 AED | Details |
| Galactosemia Panel 3 Test TEST-1306 LOINC 23731-3 | This diagnostic test evaluates the activity of three key enzymes (GALT, GALK, GALE) involved in galactose metabolism. | Whole Blood | 5 business days (digital report available) | 550.00 AED | Details |
| HMGCL Gene (3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency) Genetic Test TEST-5914 LOINC 81247-9 | This test identifies pathogenic variants in the HMGCL gene associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. | Whole Blood (EDTA), Buccal Swab, or FTA Card Dried Blood Spot | 3–4 Weeks | 2,800.00 AED | Details |
| IDUA Gene Hurler Syndrome Genetic Test TEST-6219 LOINC 61352-3 | This genetic test analyzes the IDUA gene for mutations associated with Mucopolysaccharidosis Type I (Hurler Syndrome). | Whole Blood (Peripheral) or Extracted DNA | 3 to 4 weeks | 2,800.00 AED | Details |
| Orotic Acid Test TEST-2830 LOINC 14634-8 | This diagnostic test evaluates urinary orotic acid concentration to identify potential urea cycle defects and hereditary orotic aciduria. | Random Urine | 4 working days | 800.00 AED | Details |
| Succinylacetone Urine Test TEST-3192 LOINC 32624-8 | This diagnostic test evaluates the concentration of succinylacetone in urine, a key biomarker for Hereditary Tyrosinemia Type I. | Random urine (10 mL) | 3–4 working days (Mon/Thu by 9 am; Report Thu/Mon) | 850.00 AED | Details |
Clinical overview
About Inborn Errors of Metabolism
Before your appointment
Preparation & sample collection
Follow the instructions you are given
Fasting, timing and medicine restrictions differ between investigations. The instructions for your specific request are confirmed when you book.
Bring your identification
A valid photo ID is required at collection so that your sample is matched correctly to your record.
Tell us about medicines
Prescription medicines, supplements and recent procedures can affect how an investigation is scheduled or interpreted — please mention them.
Ask before collection
If anything about preparation is unclear, contact us before your appointment. Preparation errors can affect reporting times.
Patient information
Frequently asked questions
Practical answers about Inborn Errors of Metabolism testing at DNA Labs UAE. This information is general and does not replace advice from your treating clinician.
How do I choose the right Inborn Errors of Metabolism test?
The correct investigation depends on what your clinician is trying to establish. Review the specimen type and turnaround time below, then confirm the choice with your treating doctor before booking.
What specimen is required?
Specimen requirements are listed for each investigation. If a request involves more than one sample type, our team will confirm what is needed at the time of booking.
Do you offer home sample collection in Dubai and the UAE?
Yes. Home collection can be arranged across Dubai and the wider UAE. Availability and appointment windows vary by location, so please confirm when you book.
How long do results take?
Turnaround depends on the investigation and the method used. The expected reporting time is confirmed with you before collection.
Is there anything I need to do before sample collection?
Some investigations require fasting, a specific collection time, or avoiding certain medicines or activities. Preparation details are shared when you book — please follow them and ask if anything is unclear.
How will I receive my report?
Reports are issued as secure digital documents and can be shared with your referring clinician on request. Please review results with a qualified clinician who can interpret them in context.
About this clinical information
The information on this Inborn Errors of Metabolism page describes laboratory investigations in general terms. It is written to help you understand what an investigation involves — it is not a diagnosis and it is not a substitute for advice from your treating clinician.
- Investigation names, specimen types and listed prices are reviewed against laboratory records.
- Preparation guidance is indicative — confirm test-specific instructions before collection.
- Content is updated when investigations, methods or reporting formats change.
- Results are released to the patient and, on request, shared with the referring clinician.
Medical disclaimer: This page is for general information and education only. It is not medical advice, diagnosis or treatment, and it does not replace a consultation with a qualified healthcare professional. Always seek the advice of your doctor or another qualified provider with any questions about a medical condition or before ordering a test.
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- Home collection available across the UAE
- Digital reports delivered securely
- Confidential handling of every request
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