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.

Tests in this category

Listed price range

450.00–2,800.00 AED

Clinical preparation

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Metabolic Disorders test prices

Showing 31–38 of 38 matching tests.

Metabolic Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-2983 Pyruvate (Pyruvic Acid) Blood Test This diagnostic test evaluates the level of pyruvate, a key intermediate in energy metabolism, in the blood.	Peripheral venous blood (plasma)	Same-day reporting (sample received by 2 pm)	850.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pyruvate (Pyruvic Acid)", "Glycolysis end product", "Mitochondrial energy metabolism"] Parameters [{"name": "Pyruvate", "reference_range": null}] Preparation ["Fasting is not mandatory, but a 4-hour fast is recommended for best accuracy.", "Inform the laboratory and doctor about all medications and supplements (e.g., metformin, valproic acid)."] Indications ["Assessment of mitochondrial energy metabolism", "Diagnosis of lactic acidosis", "Investigation of inborn errors of metabolism", "Pediatric evaluations", "Neonatal screening", "Sports medicine evaluations"] Measurement technique Confirm with laboratory Codes LOINC: 2648-6 ICD-10: E74.8 Clinical summary This diagnostic test evaluates the level of pyruvate, a key intermediate in energy metabolism, in the blood.
TEST-6151 SCNN1A Gene Bronchiectasis with or without Elevated Sweat Chloride Type 2 Genetic Test This diagnostic test evaluates the SCNN1A gene for pathogenic variants associated with bronchiectasis and elevated sweat chloride levels.	Whole Blood (3–5 mL), Extracted DNA, 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 ["SCNN1A gene pathogenic variants", "Copy Number Variations (CNV) in SCNN1A"] Parameters [] Preparation ["No fasting required", "Continue regular medications unless advised otherwise by a doctor", "Genetic counselling must be completed prior to sampling"] Indications ["Diagnosis of genetic predisposition to bronchiectasis", "Carrier screening", "Family risk assessment"] Measurement technique Confirm with laboratory Codes LOINC: 84415-0 ICD-10: J47.9 Clinical summary This diagnostic test evaluates the SCNN1A gene for pathogenic variants associated with bronchiectasis and elevated sweat chloride levels.
TEST-5995 SGSH Gene Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome) Genetic Test This test identifies pathogenic variants in the SGSH gene, confirming a diagnosis of Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome) or determining carrier status.	Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (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 SGSH gene", "Presence of missense, nonsense, splice-site, indel, and copy-number variants"] Parameters [] Preparation ["Mandatory pre-test genetic counseling session.", "Completion of informed consent documentation.", "Provision of complete clinical history from referring physician."] Indications ["Diagnosis of suspected Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome)", "Carrier screening for at-risk family members", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 21631-1 ICD-10: E76.22 Clinical summary This test identifies pathogenic variants in the SGSH gene, confirming a diagnosis of Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome) or determining carrier status.
TEST-6164 SLC25A15 Gene HHH Syndrome NGS Test This test identifies pathogenic variants in the SLC25A15 gene associated with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.	Peripheral 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 SLC25A15 gene", "Single nucleotide variants", "Small insertions", "Small deletions"] Parameters [] Preparation ["No fasting or special preparation required"] Indications ["Suspected HHH syndrome", "Family history of HHH syndrome", "Cascade screening for at-risk relatives"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: E72.2, E72.29 Clinical summary This test identifies pathogenic variants in the SLC25A15 gene associated with hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
TEST-6310 SLC6A19 Gene (Hartnup Disorder) Genetic Test This genetic test evaluates the SLC6A19 gene for pathogenic variants associated with Hartnup disorder.	Peripheral whole blood, extracted DNA, or FTA card sample	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 SLC6A19 gene", "Amino acid transport function"] Parameters [] Preparation ["No specific fasting required", "Do not discontinue prescribed medications without consulting a doctor"] Indications ["Diagnosis of Hartnup disorder", "Identification of carriers", "Family history of Hartnup disorder"] Measurement technique Confirm with laboratory Codes LOINC: 85661-7 ICD-10: E72.0 Clinical summary This genetic test evaluates the SLC6A19 gene for pathogenic variants associated with Hartnup disorder.
TEST-5951 SLC7A5 Gene (Phenylketonuria Modifier) Genetic Test This genetic test evaluates the SLC7A5 gene for variants that modify the severity of phenylketonuria (PKU). It helps guide personalized dietary management strategies for affected i...	Peripheral whole blood (EDTA) or extracted genomic DNA	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SLC7A5 gene variants", "Genetic modifiers of PKU severity"] Parameters [] Preparation ["No specific fasting required", "Do not alter prescribed dietary formula or medication"] Indications ["Patients diagnosed with Phenylketonuria (PKU)", "Assessment of PKU severity", "Guidance for dietary management in PKU"] Measurement technique Confirm with laboratory Codes LOINC: 48508-4 ICD-10: E70.0 Clinical summary This genetic test evaluates the SLC7A5 gene for variants that modify the severity of phenylketonuria (PKU). It helps guide personalized dietary management strategies for affected individuals.
TEST-3147 Sphingolipidosis Panel 2 Test This diagnostic test evaluates lysosomal enzyme activities in whole blood to identify specific sphingolipid storage disorders.	Whole blood	4 working days	900.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Lysosomal enzyme activities (Glucocerebrosidase, Sphingomyelinase, Alpha-galactosidase A)", "Biochemical markers for Gaucher disease, Niemann-Pick types A/B, Fabry disease"] Parameters [{"name": "Glucocerebrosidase", "reference_range": "nanomole/hour/mg protein (Specific range provided in lab report)"}, {"name": "Sphingomyelinase", "reference_range": "nanomole/hour/mg protein (Specific range provided in lab report)"}, {"name": "Alpha-galactosidase A", "reference_range": "nanomole/hour/mg protein (Specific range provided in lab report)"}] Preparation ["No fasting required.", "Inform physician about all current medications, especially enzyme replacement therapy or substrate reduction therapy."] Indications ["Suspicion of Gaucher disease", "Suspicion of Niemann-Pick types A/B", "Suspicion of Fabry disease", "Evaluation of unexplained neurological regression"] Measurement technique Confirm with laboratory Codes LOINC: 21046-5 ICD-10: E75.2 Clinical summary This diagnostic test evaluates lysosomal enzyme activities in whole blood to identify specific sphingolipid storage disorders.
TEST-3195 Succinylacetone Blood Test This test measures the level of succinylacetone in a dried blood spot sample to screen for and diagnose Tyrosinemia Type I.	Dried Blood Spot (Heel/Finger Prick) on Filter Paper	4 days (Monday/Thursday collection cut-off)	850.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Succinylacetone levels", "Metabolic pathway dysfunction related to Tyrosinemia Type I"] Parameters [{"name": "Succinylacetone", "reference_range": null}] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Screening for Tyrosinemia Type I", "Diagnosis of Tyrosinemia Type I", "Monitoring treatment response in Tyrosinemia Type I"] Measurement technique Confirm with laboratory Codes LOINC: 104570-3 ICD-10: E70.21 Clinical summary This test measures the level of succinylacetone in a dried blood spot sample to screen for and diagnose Tyrosinemia Type I.

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.