Metabolic Disorders tests in Dubai & UAE

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

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Listed price range

450.00–2,800.00 AED

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Metabolic Disorders test prices

Showing 16–30 of 38 matching tests.

Metabolic Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-6001 GNPTG Gene Mucolipidosis Type III Gamma Genetic Test This test detects pathogenic variants in the GNPTG gene associated with mucolipidosis type III gamma (pseudo-Hurler polydystrophy). It provides a definitive molecular diagnosis.	Peripheral whole blood (EDTA), extracted DNA, or dried blood spot on 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 GNPTG gene", "Full gene coverage including coding exons and flanking intronic regions"] Parameters [{"name": "Sensitivity", "reference_range": "99.9%"}, {"name": "Gene Coverage", "reference_range": "Full GNPTG gene coverage"}] Preparation ["No specific fasting required", "No medication or diet restrictions"] Indications ["Patients with clinical features suggestive of mucolipidosis type III gamma", "Carrier screening", "Prenatal testing", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 87436-6 ICD-10: E77.0 Clinical summary This test detects pathogenic variants in the GNPTG gene associated with mucolipidosis type III gamma (pseudo-Hurler polydystrophy). It provides a definitive molecular diagnosis.
TEST-5935 GNS Gene Mucopolysaccharidosis Type 3D (MPS 3D) Genetic Test This test evaluates the GNS gene for pathogenic variants associated with Sanfilippo syndrome type D (MPS 3D). It identifies mutations causing this progressive lysosomal storage dis...	Whole blood (EDTA), extracted DNA, or FTA blood spot	3 to 4 weeks from sample receipt	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the GNS gene", "Single nucleotide variants", "Small indels", "Copy number changes"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Individuals with clinical suspicion of Sanfilippo syndrome type D", "Family history of MPS 3D", "Carrier screening in families with affected individuals"] Measurement technique Confirm with laboratory Codes LOINC: 82373-7 ICD-10: E76.22, Z14.8, Z82.79 Clinical summary This test evaluates the GNS gene for pathogenic variants associated with Sanfilippo syndrome type D (MPS 3D). It identifies mutations causing this progressive lysosomal storage disorder.
TEST-1517 HHH Syndrome (Hyperornithinemia-Hyperammonemia-Homocitrullinuria) Test This diagnostic test evaluates urinary levels of ornithine, ammonia, and homocitrulline to identify HHH syndrome.	Urine	5 working days	1,500.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Urinary Ornithine", "Urinary Ammonia", "Urinary Homocitrulline"] Parameters [{"name": "Urinary Ornithine", "reference_range": null}, {"name": "Urinary Ammonia", "reference_range": null}, {"name": "Urinary Homocitrulline", "reference_range": null}] Preparation ["Collect a random clean-catch urine sample (minimum 15 mL)", "Provide brief clinical history including dietary modifications or medications"] Indications ["Suspected urea cycle disorder", "Evaluation of hyperammonemia", "Confirmation of HHH syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 48796-5 ICD-10: E72.2 Clinical summary This diagnostic test evaluates urinary levels of ornithine, ammonia, and homocitrulline to identify HHH syndrome.
TEST-6283 HLCS Gene Holocarboxylase Synthetase Deficiency Genetic Test This genetic test evaluates the HLCS gene for pathogenic variants associated with Holocarboxylase Synthetase Deficiency.	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 HLCS gene"] Parameters [] Preparation ["Disclose high-dose biotin supplements (>30 mg/day) during pre-test clinical review."] Indications ["Confirmation of clinical diagnosis", "Carrier screening", "Targeted family planning"] Measurement technique Confirm with laboratory Codes LOINC: 82939-0 ICD-10: E74.8 Clinical summary This genetic test evaluates the HLCS gene for pathogenic variants associated with Holocarboxylase Synthetase Deficiency.
TEST-6018 HMGCS2 Gene (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency) Genetic Test This test identifies pathogenic variants in the HMGCS2 gene associated with 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency.	Whole Blood (EDTA)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in HMGCS2 gene", "Exons", "Splice junctions", "Deep intronic hotspots"] Parameters [] Preparation ["No fasting required."] Indications ["Suspected 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency", "Carrier screening", "Prenatal screening"] Measurement technique Confirm with laboratory Codes LOINC: 93356-4 ICD-10: E71.1 Clinical summary This test identifies pathogenic variants in the HMGCS2 gene associated with 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency.
TEST-5763 HPD Gene Tyrosinemia Type 3 Genetic Test This test sequences the entire HPD gene to identify pathogenic variants associated with Hereditary Tyrosinemia Type 3.	Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot on FTA Card	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["HPD gene sequence", "Pathogenic variants", "Copy Number Variations (CNV)"] Parameters [] Preparation ["No fasting required", "No specific medication avoidance mandated"] Indications ["Suspected Hereditary Tyrosinemia Type 3", "Carrier screening", "Family history of Tyrosinemia Type 3"] Measurement technique Confirm with laboratory Codes LOINC: 101368-9 ICD-10: E70.29 Clinical summary This test sequences the entire HPD gene to identify pathogenic variants associated with Hereditary Tyrosinemia Type 3.
TEST-5980 HYAL1 Gene Mucopolysaccharidosis Type 9 (MPS IX) Genetic Test This genetic test identifies pathogenic variants within the HYAL1 gene, confirming the molecular basis for Mucopolysaccharidosis Type 9 (MPS IX).	Whole Blood, Extracted DNA, 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 HYAL1 gene", "Presence of mutations causing MPS IX"] Parameters [] Preparation ["Inform laboratory of anticoagulant therapy or bleeding disorders prior to sample collection.", "Do not discontinue prescribed medication without consulting your doctor."] Indications ["Confirmation of clinical diagnosis of MPS IX", "Carrier screening", "Prenatal testing", "Guiding enzyme replacement therapy"] Measurement technique Confirm with laboratory Codes LOINC: 94027-8 ICD-10: E76.22 Clinical summary This genetic test identifies pathogenic variants within the HYAL1 gene, confirming the molecular basis for Mucopolysaccharidosis Type 9 (MPS IX).
TEST-6308 IDH2 Gene D‑2‑Hydroxyglutaric Aciduria Type 2 Genetic Test This genetic test identifies pathogenic variants in the IDH2 gene associated with D‑2‑hydroxyglutaric aciduria type 2.	Peripheral whole blood (EDTA) or Buccal swab	3 to 4 Weeks from sample receipt	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the IDH2 gene", "Single-nucleotide variants (SNVs)", "Insertions/deletions (indels)", "Copy-number variants (CNVs)"] Parameters [] Preparation [] Indications ["Clinical suspicion of D‑2‑hydroxyglutaric aciduria type 2", "Carrier screening for at-risk family members"] Measurement technique Confirm with laboratory Codes LOINC: 92894-3 ICD-10: E72.52 Clinical summary This genetic test identifies pathogenic variants in the IDH2 gene associated with D‑2‑hydroxyglutaric aciduria type 2.
TEST-1720 IMD Panel Quantitative Blood Test (Inborn Errors of Metabolism) This test quantitatively screens for over 30 inborn errors of metabolism using tandem mass spectrometry on a dried blood spot sample.	Dried Blood Spot (heel-prick on filter paper)	Next-day reporting (sample Mon/Wed/Fri by 9 am)	1,100.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Amino acids", "Acylcarnitines", "Organic acids"] Parameters [{"name": "Amino Acids", "reference_range": null}, {"name": "Acylcarnitines", "reference_range": null}, {"name": "Organic Acids", "reference_range": null}] Preparation ["No fasting required for routine newborn screening", "Provide infant’s clinical history, medication list, and feeding regimen", "Sample ideally collected 24-48 hours after birth"] Indications ["Newborn screening", "Confirmatory testing after abnormal newborn screen", "Screening for older infants, children, and at-risk adults"] Measurement technique Confirm with laboratory Codes LOINC: 65721-0 ICD-10: Z13.228 Clinical summary This test quantitatively screens for over 30 inborn errors of metabolism using tandem mass spectrometry on a dried blood spot sample.
TEST-6145 Isovaleric Acidemia (IVD) Gene Genetic Test This genetic test identifies disease-causing variants in the IVD gene responsible for isovaleric acidemia.	Peripheral whole blood (EDTA) or FTA card	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 IVD gene", "Copy number variations (CNV) in the IVD gene"] Parameters [] Preparation ["No fasting or dietary restrictions required", "Mandatory pre-test genetic counselling session required"] Indications ["Clinical or biochemical suspicion of isovaleric acidemia", "Abnormal newborn screening results suggesting elevated isovalerylcarnitine (C5) levels", "Carrier screening in consanguineous couples with a family history of organic acid disorders", "Prenatal diagnosis planning in affected families"] Measurement technique Confirm with laboratory Codes LOINC: 87541-2 ICD-10: E71.110 Clinical summary This genetic test identifies disease-causing variants in the IVD gene responsible for isovaleric acidemia.
TEST-6111 LIPA Gene Cholesteryl Ester Storage Disease Genetic Test This test analyzes the LIPA gene for pathogenic variants associated with cholesterol ester storage disease (CESD) and Wolman disease.	Whole Blood (EDTA), 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 ["LIPA gene sequence", "Pathogenic variants (point mutations, indels, CNVs)"] Parameters [] Preparation [] Indications ["Diagnosis of CESD", "Diagnosis of Wolman disease", "Carrier testing", "Family screening", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 74694-2 ICD-10: E75.5 Clinical summary This test analyzes the LIPA gene for pathogenic variants associated with cholesterol ester storage disease (CESD) and Wolman disease.
TEST-5100 MAT1A Gene Methionine Adenosyltransferase Deficiency (Autosomal Recessive) Genetic Test This test identifies pathogenic variants in the MAT1A gene, confirming the genetic basis for autosomal recessive methionine adenosyltransferase deficiency.	Peripheral whole blood (EDTA), or buccal swab (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 MAT1A gene", "Single-nucleotide variants", "Small insertions/deletions", "Splice-site alterations"] Parameters [] Preparation ["No specific fasting required", "No medication or diet changes needed prior to sample collection"] Indications ["Individuals with persistent hypermethioninemia", "Unexplained neurological symptoms", "Liver dysfunction", "Family history of methionine metabolism disorders", "Confirmation of suspected diagnosis before initiating lifelong dietary management"] Measurement technique Confirm with laboratory Codes LOINC: 94673-4 ICD-10: E72.19 Clinical summary This test identifies pathogenic variants in the MAT1A gene, confirming the genetic basis for autosomal recessive methionine adenosyltransferase deficiency.
TEST-2509 Metachromatic Leukodystrophy Quantitative Blood Test This diagnostic test evaluates the activity level of the arylsulfatase A (ARSA) enzyme in a blood sample.	Whole blood (EDTA or sodium heparin)	4 working days	450.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Arylsulfatase A (ARSA) enzyme activity", "Metabolic function related to MLD"] Parameters [{"name": "Arylsulfatase A (ARSA) Enzyme Activity", "reference_range": null}] Preparation ["No fasting or dietary restrictions required", "Provide brief clinical history"] Indications ["Suspected metachromatic leukodystrophy", "Follow-up for abnormal newborn screening", "Evaluation of progressive neurological symptoms"] Measurement technique Confirm with laboratory Codes LOINC: 25415-9 ICD-10: E75.23 Clinical summary This diagnostic test evaluates the activity level of the arylsulfatase A (ARSA) enzyme in a blood sample.
TEST-5905 OTC Gene Ornithine Transcarbamylase Deficiency Genetic Test This test analyzes the OTC gene for pathogenic variants associated with Ornithine Transcarbamylase Deficiency.	Whole Blood (EDTA) or Dried Blood Spot (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 OTC gene", "Single nucleotide variants (SNVs)", "Insertions/deletions (indels)", "Copy number variations (CNVs)"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medication without physician instruction"] Indications ["Suspected Ornithine Transcarbamylase Deficiency", "Carrier screening", "Family planning", "Prenatal diagnosis", "Preimplantation genetic testing (PGT)"] Measurement technique Confirm with laboratory Codes LOINC: 92815-3 ICD-10: E72.4, E72.2, E72.9 Clinical summary This test analyzes the OTC gene for pathogenic variants associated with Ornithine Transcarbamylase Deficiency.
TEST-5884 PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic Genetic Test This genetic test identifies pathogenic variants in the PCK1 gene, confirming a diagnosis of cytosolic phosphoenolpyruvate carboxykinase deficiency.	Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card)	3 – 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PCK1 gene sequence", "Pathogenic variants (SNVs, indels, CNVs)"] Parameters [] Preparation ["No specific fasting required", "No medication adjustments needed before testing"] Indications ["Suspected cytosolic phosphoenolpyruvate carboxykinase deficiency", "Family history of the disorder", "Metabolic acidosis-prone patients"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: E74.89 Clinical summary This genetic test identifies pathogenic variants in the PCK1 gene, confirming a diagnosis of cytosolic phosphoenolpyruvate carboxykinase deficiency.

Category overview

Metabolic Disorders: overview

Facing complex symptoms like unexplained weight changes or chronic fatigue can be daunting, but targeted diagnostic clarity offers a clear path toward restoring balance. Within our specialized Biochemistry services, advanced testing for Metabolic Disorders deeply evaluates specific enzymatic and hormonal pathways to uncover hidden metabolic dysfunctions. Utilizing cutting-edge diagnostic technology, this comprehensive metabolic disorder screening provides the critical insights necessary to safely guide highly personalized medical treatments, dietary plans, and lifestyle adjustments. Widely respected among premier diagnostic labs in Dubai and the UAE, DNA Labs guarantees strict patient confidentiality, unparalleled diagnostic precision, and rapid, dependable reporting. Reclaim your metabolic health—book your metabolic disorders testing in UAE, schedule a comfortable home sample collection, or connect with our dedicated team of specialists.

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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.