Inherited Metabolic Disorders tests in Dubai & UAE

Compare available Inherited Metabolic Disorders 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

2,800.00–3,000.00 AED

Clinical preparation

Confirm test-specific instructions with your clinician or laboratory.

Compare available tests

Inherited Metabolic Disorders test prices

Showing 1–15 of 23 matching tests.

Inherited Metabolic Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-6376 AGL Gene Glycogen Storage Disease Type 3 Genetic Test This test identifies pathogenic variants in the AGL gene, confirming a diagnosis of Glycogen Storage Disease Type III (Cori Disease). It analyzes the entire coding region of the ge...	Whole blood (EDTA) – 3-5 mL	21 to 28 calendar days with interim verbal report at Day 14	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the AGL gene", "Single-nucleotide variants", "Small insertions/deletions", "Copy-number variations"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medications or dietary regimens without consulting a physician"] Indications ["Suspected Glycogen Storage Disease Type III based on clinical presentation", "Biochemical evidence of glycogen debranching enzyme deficiency", "Family history of GSD Type III", "Carrier screening in at-risk individuals", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 89952-7 ICD-10: E74.03 Clinical summary This test identifies pathogenic variants in the AGL gene, confirming a diagnosis of Glycogen Storage Disease Type III (Cori Disease). It analyzes the entire coding region of the gene using Next-Generation Sequencing.
TEST-6043 BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency Genetic Test This genetic test identifies pathogenic variants in the BCAT1 gene, confirming a diagnosis of Branched-Chain Aminotransferase 1 Deficiency.	Whole Blood, Buccal Swab, or FTA Card	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["BCAT1 gene sequence", "Pathogenic variants in BCAT1 gene"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication"] Indications ["Clinical suspicion of branched-chain amino acid metabolism disorders", "Unexplained developmental delay", "Neurological deterioration", "Family history of BCAT1 deficiency"] Measurement technique Confirm with laboratory Codes LOINC: 87712-1 ICD-10: E71.1 Clinical summary This genetic test identifies pathogenic variants in the BCAT1 gene, confirming a diagnosis of Branched-Chain Aminotransferase 1 Deficiency.
TEST-6211 CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency Genetic Test This test identifies pathogenic variants in the CA5A gene associated with hyperammonemia.	Whole blood (EDTA), dried blood spot on FTA card, or extracted DNA	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CA5A gene sequence", "Pathogenic variants in CA5A"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medications"] Indications ["Suspected CA5A deficiency", "Neonatal hyperammonemia", "Family history of urea cycle disorders", "At-risk family members"] Measurement technique Confirm with laboratory Codes LOINC: 81748-2 ICD-10: E72.2, E72.8, Z13.228 Clinical summary This test identifies pathogenic variants in the CA5A gene associated with hyperammonemia.
TEST-6155 CPS1 Gene (Carbamoylphosphate Synthetase I Deficiency) Genetic Test This test identifies mutations in the CPS1 gene, confirming a diagnosis of carbamoylphosphate synthetase I deficiency, a urea cycle disorder.	Whole blood, extracted DNA, or dried blood spot on FTA card	3 to 4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["CPS1 gene mutations", "Urea cycle disorder"] Parameters [] Preparation ["No fasting or special preparation needed unless advised by physician", "Do not stop prescribed medication without medical guidance"] Indications ["Suspected urea cycle disorder", "Symptomatic individuals", "Screening at-risk family members"] Measurement technique Confirm with laboratory Codes LOINC: 93397-8 ICD-10: E72.21 Clinical summary This test identifies mutations in the CPS1 gene, confirming a diagnosis of carbamoylphosphate synthetase I deficiency, a urea cycle disorder.
TEST-6090 DBT Gene (Maple Syrup Urine Disease Type 2) Genetic Test This test identifies pathogenic variants within the DBT gene, confirming a diagnosis of Maple Syrup Urine Disease Type 2.	Peripheral Blood (Whole Blood, EDTA), Extracted DNA, or FTA Card (Dried Blood Spot)	3–4 Weeks (urgent infant option available)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the DBT gene", "Single nucleotide variants (SNVs)", "Small insertions and deletions (indels)"] Parameters [{"name": "Diagnostic Sensitivity", "reference_range": ">99% for SNVs/indels"}, {"name": "Analytical Specificity", "reference_range": ">99% for SNVs/indels"}, {"name": "Methodology", "reference_range": "Next-Generation Sequencing (NGS) + ACMG 2026 ML Interpretation"}] Preparation ["No specific fasting required for blood samples.", "Inform the lab of any recent blood transfusions."] Indications ["Symptomatic neonates suspected of MSUD II", "Pre-symptomatic sibling screening", "Carrier detection in consanguineous families", "Positive newborn screening for MSUD", "Family history of MSUD II"] Measurement technique Confirm with laboratory Codes LOINC: 21648-5 ICD-10: E71.0 Clinical summary This test identifies pathogenic variants within the DBT gene, confirming a diagnosis of Maple Syrup Urine Disease Type 2.
TEST-6350 DPM2 Gene Analysis Test This test identifies pathogenic variants in the DPM2 gene associated with Congenital Disorder of Glycosylation Type 1U (CDG-1U).	Whole Blood, Extracted DNA, or One Drop Blood on FTA Card	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 DPM2 gene", "Single nucleotide variants", "Small insertions", "Small deletions", "Copy number variations"] Parameters [] Preparation ["No specific fasting required for serum sample (if applicable)", "Mandatory pre-test genetic counselling session required"] Indications ["Suspected Congenital Disorder of Glycosylation Type 1U (CDG-1U)", "Unexplained developmental delay or hypotonia", "Family planning for individuals with CDG-1U"] Measurement technique Confirm with laboratory Codes LOINC: 101387-9 ICD-10: E77.8, E77.9, Z13.228 Clinical summary This test identifies pathogenic variants in the DPM2 gene associated with Congenital Disorder of Glycosylation Type 1U (CDG-1U).
TEST-6307 FH Gene Fumarase Deficiency Genetic Test This genetic test evaluates the FH gene for mutations associated with fumarase deficiency.	Whole Blood (EDTA) / Extracted DNA / FTA Card	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FH gene mutations", "Single nucleotide variants", "Insertions/deletions", "Copy number variations"] Parameters [] Preparation ["Do not discontinue prescribed medication or dietary therapy without consulting a physician"] Indications ["Suspected fumarase deficiency", "Unexplained neurologic regression in infants or children", "Metabolic acidosis"] Measurement technique Confirm with laboratory Codes LOINC: 91846-4 ICD-10: E74.8, R90.0 Clinical summary This genetic test evaluates the FH gene for mutations associated with fumarase deficiency.
TEST-6395 GBA Gene Gaucher Disease Type 3 Genetic Test This test identifies pathogenic variants within the GBA gene, confirming a diagnosis of Gaucher disease type 3.	Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["GBA gene sequence", "Copy number variations in GBA gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Diagnosis of Gaucher disease type 3", "Carrier status screening", "Prenatal planning"] Measurement technique Confirm with laboratory Codes LOINC: 90528-6 ICD-10: E75.22 Clinical summary This test identifies pathogenic variants within the GBA gene, confirming a diagnosis of Gaucher disease type 3.
TEST-5927 GUSB Gene Mucopolysaccharidosis Type VII (MPS VII) Genetic Test This test identifies pathogenic variants in the GUSB gene associated with Mucopolysaccharidosis Type VII (MPS VII). It provides definitive molecular confirmation for diagnosis and...	Peripheral Whole Blood (or alternative specimens: Extracted DNA, 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 GUSB gene", "Point mutations", "Copy number variants"] Parameters [] Preparation ["No special preparation needed"] Indications ["Patients with clinical features suggestive of MPS VII", "Carrier screening in families with known GUSB mutations", "Confirmation of diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 94451-4 ICD-10: E76.22 Clinical summary This test identifies pathogenic variants in the GUSB gene associated with Mucopolysaccharidosis Type VII (MPS VII). It provides definitive molecular confirmation for diagnosis and genetic counseling.
TEST-6137 LCT Gene Congenital Lactase Deficiency Genetic Test This genetic test identifies pathogenic variants in the LCT gene associated with congenital lactase deficiency.	Whole blood / Extracted DNA / FTA card droplet	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 LCT gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of recent blood transfusions"] Indications ["Suspected congenital lactase deficiency", "Severe diarrhea in newborns/infants", "Failure to thrive", "Family history of CLD"] Measurement technique Confirm with laboratory Codes LOINC: 94026-6 ICD-10: E73.0 Clinical summary This genetic test identifies pathogenic variants in the LCT gene associated with congenital lactase deficiency.
TEST-5841 LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Genetic Test This genetic test identifies pathogenic variants in the LIAS gene associated with Lipoic Acid Synthetase Deficiency.	Whole Blood (EDTA), Extracted DNA, or One Drop Blood on FTA Card	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["LIAS gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["No specific fasting required", "Provide family history if possible"] Indications ["Suspected LIAS gene deficiency", "Family history of LIAS deficiency", "Evaluation of metabolic disorders"] Measurement technique Confirm with laboratory Codes LOINC: 86215-4 ICD-10: E74.4, G31.82, Z13.79 Clinical summary This genetic test identifies pathogenic variants in the LIAS gene associated with Lipoic Acid Synthetase Deficiency.
TEST-5976 MCEE Gene Methylmalonyl‑CoA Epimerase Deficiency Genetic Test This test identifies genetic variants in the MCEE gene associated with Methylmalonyl‑CoA Epimerase Deficiency.	Whole Blood (Peripheral, EDTA)	21–28 calendar days	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the MCEE gene", "Splice site variants"] Parameters [] Preparation ["Do Not Discontinue Prescribed Therapy", "Patients receiving metabolic formulas, levocarnitine, hydroxocobalamin (vitamin B12), or any disease-specific therapy must not alter or stop their medication without direct consultation with their managing metabolic physician."] Indications ["Clinical or biochemical suspicion of methylmalonic acidemia", "Asymptomatic siblings of an affected proband", "Carrier couples considering family planning"] Measurement technique Confirm with laboratory Codes LOINC: 101334-8 ICD-10: E71.128, E71.120, Z13.79 Clinical summary This test identifies genetic variants in the MCEE gene associated with Methylmalonyl‑CoA Epimerase Deficiency.
TEST-6345 MOGS Gene Glycosylation Disorder Type 2B Genetic Test This test identifies pathogenic variants in the MOGS gene associated with Congenital Disorder of Glycosylation Type IIb (CDG-IIb), a rare autosomal recessive metabolic disorder.	Whole Blood (Peripheral)	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 MOGS gene", "Molecular confirmation of CDG-IIb"] Parameters [] Preparation ["No specific fasting required", "Inform laboratory of recent blood transfusion (within 4 weeks)"] Indications ["Individuals with clinical features suggestive of CDG-IIb", "Carrier testing in families with known MOGS mutations", "Prenatal diagnosis in at-risk pregnancies"] Measurement technique Confirm with laboratory Codes LOINC: 78925-4 ICD-10: E77.8 Clinical summary This test identifies pathogenic variants in the MOGS gene associated with Congenital Disorder of Glycosylation Type IIb (CDG-IIb), a rare autosomal recessive metabolic disorder.
TEST-5921 PCCB Gene Propionic Acidemia Genetic Test This test evaluates the PCCB gene for pathogenic variants associated with Propionic Acidemia.	Peripheral Whole Blood or FTA Card	3 to 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PCCB gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["No fasting required", "Report any medications to the clinical team"] Indications ["Clinical symptoms suggestive of Propionic Acidemia", "Abnormal newborn screening results", "Family history of Propionic Acidemia", "Carrier screening before pregnancy", "Assessment of recurrence risk"] Measurement technique Confirm with laboratory Codes LOINC: 94498-7 ICD-10: E71.121 Clinical summary This test evaluates the PCCB gene for pathogenic variants associated with Propionic Acidemia.
TEST-5947 PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency (Mitochondrial) DNA Test via NGS This diagnostic test evaluates the entire PCK2 gene for mutations associated with mitochondrial phosphoenolpyruvate carboxykinase deficiency.	Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PCK2 gene sequence", "Mutations within the PCK2 gene"] Parameters [] Preparation [] Indications ["Individuals with unexplained hypoglycemia", "Individuals with lactic acidosis", "Individuals with a family history of metabolic crises", "Directed by a general practitioner or clinical geneticist after metabolic workup"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: E74.89 Clinical summary This diagnostic test evaluates the entire PCK2 gene for mutations associated with mitochondrial phosphoenolpyruvate carboxykinase deficiency.

Category overview

Inherited Metabolic Disorders: overview

Dealing with sudden energy crises, severe muscle weakness, or unexplained organ dysfunction from childhood demands incredibly precise diagnostic intervention to unlock targeted metabolic relief. As an advanced diagnostic tool in our Molecular Genetics department, testing for Inherited Metabolic Disorders deeply sequences the genes responsible for breaking down proteins, fats, and carbohydrates within your cells. Utilizing cutting-edge diagnostic technology, this expansive screening ends the diagnostic odyssey, offering the exact data necessary to safely guide specialized biochemical therapies, targeted nutritional interventions, and comprehensive metabolic monitoring. Highly regarded for clinical excellence among the best diagnostic labs in the UAE, DNA Labs guarantees absolute patient confidentiality, exceptional analytical accuracy, and prompt, reliable turnaround times for time-sensitive cases. Empower your customized medical management—schedule your inherited metabolic disorders testing in UAE, coordinate a secure clinical sample collection, or consult our dedicated metabolic specialists today.

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.