Inborn Errors of Metabolism tests in Dubai & UAE

Compare available Inborn Errors of Metabolism tests, their listed prices and the information provided for each option. Test selection and preparation should be discussed with your clinician.

Tests in this category

Listed price range

550.00–2,800.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Inborn Errors of Metabolism test prices

Showing 1–11 of 11 matching tests.

Inborn Errors of Metabolism diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-144 Alcaptonuria Urine Qualitative Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Homogentisic acid in urine"] Parameters [] Preparation ["Collect a freshly voided midstream urine specimen", "Wrap sample in aluminium foil", "Refrigerate sample immediately"] Indications ["Screening for alkaptonuria", "Investigation of dark urine", "Evaluation of suspected metabolic disorders"] Measurement technique Confirm with laboratory Codes LOINC: 2751-9 ICD-10: E70.2 Clinical summary This test qualitatively detects homogentisic acid in urine, serving as a screening tool for the metabolic disorder alkaptonuria.
TEST-187 Amino Acids, Maple Syrup Urine Disease (MSUD) Panel (Plasma) Test This diagnostic test evaluates plasma levels of branched-chain amino acids (leucine, isoleucine, valine) to identify imbalances characteristic of Maple Syrup Urine Disease (MSUD).	Plasma (Peripheral Blood)	3 working days	850.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Leucine", "Isoleucine", "Valine"] Parameters [{"name": "Leucine", "reference_range": null}, {"name": "Isoleucine", "reference_range": null}, {"name": "Valine", "reference_range": null}] Preparation ["No fasting is needed.", "Inform the laboratory of all medications and clinical details.", "Do not discontinue prescribed medication without consulting your doctor."] Indications ["Suspected Maple Syrup Urine Disease (MSUD)", "Monitoring dietary therapy for MSUD", "Evaluating metabolic crises"] Measurement technique Confirm with laboratory Codes LOINC: 51063-6 ICD-10: E71.0 Clinical summary This diagnostic test evaluates plasma levels of branched-chain amino acids (leucine, isoleucine, valine) to identify imbalances characteristic of Maple Syrup Urine Disease (MSUD).
TEST-6040 BCKDHB Gene Maple Syrup Urine Disease Type 1b Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the BCKDHB gene", "Presence of point mutations, small indels, and CNVs"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed branched-chain amino acid formula or dietary management without consulting a metabolic specialist"] Indications ["Suspected diagnosis of Maple Syrup Urine Disease (MSUD) type 1b", "Differential diagnosis in patients with metabolic acidosis", "Cascade screening for at-risk family members"] Measurement technique Confirm with laboratory Codes LOINC: 21638-3 ICD-10: E71.0 Clinical summary This test identifies pathogenic variants in the BCKDHB gene to confirm a diagnosis of Maple Syrup Urine Disease (MSUD) type 1b.
TEST-519 Canavan Disease (Aspartoacylase Deficiency) Screening Test, Urine 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["N-acetylaspartic acid (NAA) concentration in urine", "Aspartoacylase enzyme deficiency (indirectly)"] Parameters [{"name": "N-acetylaspartic acid (NAA)", "reference_range": null}] Preparation ["No specific fasting required", "Ensure adequate hydration", "Do not discontinue prescribed medications without consulting a doctor"] Indications ["Infants with symptoms suggestive of Canavan disease", "Follow-up for borderline newborn screening results", "Family history of Canavan disease"] Measurement technique Confirm with laboratory Codes LOINC: 22690-4 ICD-10: E75.29, Z13.228, R82.998 Clinical summary This diagnostic test evaluates for Canavan disease by quantifying N-acetylaspartic acid (NAA) levels in urine.
TEST-1087 Fabry Disease Quantitative Blood Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Alpha-galactosidase A enzyme activity"] Parameters [{"name": "Alpha-Galactosidase A Activity", "reference_range": "null"}] Preparation ["No specific fasting required.", "Inform phlebotomist about any medications, especially anticoagulants."] Indications ["Screening for Fabry disease", "Monitoring treatment response in Fabry disease patients", "Investigation of symptoms suggestive of lysosomal storage disorders"] Measurement technique Confirm with laboratory Codes LOINC: 33330-0 ICD-10: E75.21 Clinical summary This diagnostic test evaluates the activity level of the alpha-galactosidase A enzyme in whole blood.
TEST-1284 Galactosemia Panel 2 Test This diagnostic test evaluates for inborn errors of galactose metabolism, specifically classic galactosemia, Duarte variant, and galactokinase deficiency.	Blood (Plasma)	5 Working Days	600.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Galactose-1-phosphate uridyltransferase (GALT)", "Related enzymes of galactose metabolism"] Parameters [{"name": "Galactose-1-phosphate uridyltransferase (GALT)", "reference_range": null}, {"name": "Galactokinase (GALK)", "reference_range": null}, {"name": "Galactose-6-phosphate isomerase (GPI)", "reference_range": null}] Preparation ["Avoid alcohol and galactose-rich foods for 24 hours", "Provide a detailed list of medications and supplements", "Fasting is not mandatory"] Indications ["Newborn screening follow-up", "Suspected galactosemia in infants or adults", "Diagnosis of classic galactosemia, Duarte variant, or galactokinase deficiency"] Measurement technique Confirm with laboratory Codes LOINC: 74520-7 ICD-10: E74.21 Clinical summary This diagnostic test evaluates for inborn errors of galactose metabolism, specifically classic galactosemia, Duarte variant, and galactokinase deficiency.
TEST-1306 Galactosemia Panel 3 Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["GALT (galactose-1-phosphate uridylyltransferase) enzyme activity", "GALK (galactokinase) enzyme activity", "GALE (UDP-galactose-4-epimerase) enzyme activity"] Parameters [{"name": "GALT (galactose-1-phosphate uridylyltransferase)", "reference_range": null}, {"name": "GALK (galactokinase)", "reference_range": null}, {"name": "GALE (UDP-galactose-4-epimerase)", "reference_range": null}] Preparation ["No blood transfusion within the last 60 days", "Provide complete medication and clinical history", "Sample requires 4 mL of whole blood in a green-top sodium heparin tube"] Indications ["Newborns with suspicious newborn screening results", "Infants presenting with prolonged jaundice, poor feeding, or failure to thrive", "Individuals with a family history of galactosemia"] Measurement technique Confirm with laboratory Codes LOINC: 23731-3 ICD-10: E74.21 Clinical summary This diagnostic test evaluates the activity of three key enzymes (GALT, GALK, GALE) involved in galactose metabolism.
TEST-5914 HMGCL Gene (3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency) Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the HMGCL gene", "Coding regions and splice junctions of the HMGCL gene"] Parameters [] Preparation ["Pre-test genetic counseling required", "Informed consent required"] Indications ["Confirm diagnosis in symptomatic individuals", "Guide dietary therapy", "Assess carrier status", "Inform family planning", "Positive family history"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: E71.1 Clinical summary This test identifies pathogenic variants in the HMGCL gene associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
TEST-6219 IDUA Gene Hurler Syndrome Genetic Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the IDUA gene", "Indels", "CNV detection"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any relevant medications"] Indications ["Confirmation of Hurler syndrome diagnosis", "Carrier screening", "Predictive testing for at-risk relatives"] Measurement technique Confirm with laboratory Codes LOINC: 61352-3 ICD-10: E76.01 Clinical summary This genetic test analyzes the IDUA gene for mutations associated with Mucopolysaccharidosis Type I (Hurler Syndrome).
TEST-2830 Orotic Acid Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Urinary Orotic Acid Concentration"] Parameters [{"name": "Orotic Acid", "reference_range": null}] Preparation ["Fast for 2–3 hours after the last feed", "Collect at least 15 mL of urine", "Refrigerate sample immediately"] Indications ["Suspected urea cycle disorder", "Suspected Ornithine Transcarbamylase (OTC) deficiency", "Suspected hereditary orotic aciduria", "Paediatric metabolic screening", "Therapeutic monitoring"] Measurement technique Confirm with laboratory Codes LOINC: 14634-8 ICD-10: E72.4 Clinical summary This diagnostic test evaluates urinary orotic acid concentration to identify potential urea cycle defects and hereditary orotic aciduria.
TEST-3192 Succinylacetone Urine Test 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	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Succinylacetone levels", "Fumarylacetoacetate hydrolase (FAH) enzyme deficiency indicator"] Parameters [{"name": "Succinylacetone", "reference_range": null}] Preparation ["Collect 10 mL of random urine in a sterile screw-capped container.", "No preservatives in the container.", "Refrigerate sample immediately at 2–8°C.", "No dietary restrictions required.", "Provide clinical history including symptoms and family history."] Indications ["Suspected Hereditary Tyrosinemia Type I (HT-1)", "Screening for metabolic disorders", "Evaluation of liver dysfunction in infants", "Assessment of neurological symptoms in infants"] Measurement technique Confirm with laboratory Codes LOINC: 32624-8 ICD-10: E70.21 Clinical summary This diagnostic test evaluates the concentration of succinylacetone in urine, a key biomarker for Hereditary Tyrosinemia Type I.

Category overview

Inborn Errors of Metabolism: overview

Securing the health of a newborn or investigating complex, lifelong metabolic challenges requires the highest level of specialized, compassionate diagnostic care. As an advanced subspecialty within our Biochemistry department, testing for Inborn Errors of Metabolism evaluates specific enzymatic deficiencies that affect how the body processes nutrients. Utilizing state-of-the-art diagnostic technology, this crucial metabolic screening provides the precise data needed to safely guide immediate dietary interventions and customized medical oversight. Recognized as a leader in specialized biochemistry among diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, exceptional analytical accuracy, and rapid reporting. Empower your family’s specialized healthcare journey—book your inborn errors of metabolism testing in UAE, schedule a secure home sample collection, or consult our pediatric specialists.

Before booking

Use the test details as a conversation starter

The right diagnostic option depends on your reason for testing and individual circumstances. Check the listed specimen and timing, then confirm any preparation requirements with the ordering clinician or laboratory before collection.