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.

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2,800.00–3,000.00 AED

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Inherited Metabolic Disorders test prices

Showing 16–23 of 23 matching tests.

Inherited Metabolic Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-5925 PEPD Gene Prolidase Deficiency Genetic Test This genetic test detects pathogenic variants in the PEPD gene associated with prolidase deficiency.	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 PEPD gene"] Parameters [] Preparation ["No special preparation required", "Inform doctor about all medications and supplements"] Indications ["Clinical suspicion of prolidase deficiency", "Family screening for prolidase deficiency", "Guiding management of chronic skin ulcers"] Measurement technique Confirm with laboratory Codes LOINC: 58731-0 ICD-10: E70.89 Clinical summary This genetic test detects pathogenic variants in the PEPD gene associated with prolidase deficiency.
TEST-5898 PEX7 Gene (Refsum Disease) Genetic Test This genetic test identifies mutations in the PEX7 gene associated with Refsum disease, a peroxisomal disorder.	Whole Blood (EDTA)	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["PEX7 gene mutations", "Phytanic acid accumulation (indirectly)"] Parameters [] Preparation ["No fasting required", "Provide a detailed list of all current medications, supplements, and any prior relevant laboratory or imaging results to the genetic counsellor before sample collection"] Indications ["Suspected Refsum disease", "Presence of symptoms like retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, or anosmia"] Measurement technique Confirm with laboratory Codes LOINC: 94219-9 ICD-10: E71.4 Clinical summary This genetic test identifies mutations in the PEX7 gene associated with Refsum disease, a peroxisomal disorder.
TEST-6207 QDPR Gene Hyperphenylalaninemia, BH4-Deficient, Type C Genetic Test This test identifies pathogenic variants in the QDPR gene associated with BH4-deficient hyperphenylalaninemia type C.	Peripheral Whole Blood (EDTA), Dried Blood Spot (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 ["QDPR gene sequence", "Pathogenic variants in QDPR gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of current medications"] Indications ["Suspected BH4-deficient hyperphenylalaninemia", "Confirmation of newborn screening results", "Family history of metabolic disorders"] Measurement technique Confirm with laboratory Codes LOINC: 55233-1 ICD-10: E70.1 Clinical summary This test identifies pathogenic variants in the QDPR gene associated with BH4-deficient hyperphenylalaninemia type C.
TEST-5887 SARDH Gene Sarcosinemia Genetic Test This test identifies pathogenic variants in the SARDH gene, confirming a diagnosis of sarcosinemia.	Whole Blood (EDTA) or DNA FTA Card	3–4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["SARDH gene pathogenic variants", "Sarcosine dehydrogenase deficiency"] Parameters [] Preparation ["No fasting required", "Mandatory pre-test genetic counselling session"] Indications ["Unexplained developmental delay", "Intellectual disability", "Speech impairment", "Epilepsy", "Family history of metabolic disorders", "Abnormal newborn screening", "Elevated plasma sarcosine"] Measurement technique Confirm with laboratory Codes LOINC: 94222-4 ICD-10: E72.5 Clinical summary This test identifies pathogenic variants in the SARDH gene, confirming a diagnosis of sarcosinemia.
TEST-6165 SLC25A20 Gene (Carnitine-Acylcarnitine Translocase Deficiency) Genetic Test This test analyzes the SLC25A20 gene to detect pathogenic variants associated with Carnitine-Acylcarnitine Translocase (CACT) deficiency.	Whole blood (EDTA tube) or FTA card	3–4 Weeks (21–28 business days)	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in the SLC25A20 gene", "Coverage of all exons, splice sites, and known deep intronic regions"] Parameters [] Preparation ["No specific fasting required", "Continue all current medications and dietary interventions unless advised otherwise by a physician"] Indications ["Suspected CACT deficiency based on clinical presentation", "Confirmation of diagnosis following abnormal newborn screening", "Carrier screening in families with a known history of CACT deficiency", "Prenatal diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 98122-7 ICD-10: E71.1 Clinical summary This test analyzes the SLC25A20 gene to detect pathogenic variants associated with Carnitine-Acylcarnitine Translocase (CACT) deficiency.
TEST-5900 Sphingolipidosis Enzyme Panel (Genetic Test) This genetic test evaluates for pathogenic variants in genes associated with sphingolipid storage diseases.	Whole blood (EDTA) or dried blood spot (FTA card)	21–28 Days	3,000.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Pathogenic variants in genes like GBA, SMPD1, GLA", "Point mutations", "Small indels", "Large deletions/duplications", "Copy number variants"] Parameters [] Preparation ["Attend mandatory pre-test genetic counseling", "Provide detailed family pedigree", "No fasting required", "Be in good health without acute infection", "Bring relevant medical records and medication list"] Indications ["Diagnosis of suspected sphingolipidosis", "Carrier screening", "Prenatal diagnosis", "Preimplantation genetic diagnosis (PGD)", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 103213-3 ICD-10: E75.2, Z13.228, Z84.81 Clinical summary This genetic test evaluates for pathogenic variants in genes associated with sphingolipid storage diseases.
TEST-5776 TPI1 Gene Triosephosphate Isomerase Deficiency Genetic Test This test identifies pathogenic mutations in the TPI1 gene, confirming a diagnosis of triosephosphate isomerase deficiency.	Peripheral 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 the TPI1 gene", "Exons and splice sites of the TPI1 gene"] Parameters [] Preparation ["Do not undergo blood collection within two weeks of a packed red cell transfusion.", "Never discontinue any prescribed therapy without prior consultation with your treating physician."] Indications ["Suspected triosephosphate isomerase deficiency", "Carrier screening in consanguineous families", "Prenatal diagnosis", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 81232-6 ICD-10: D55.2, E74.8, Z13.8 Clinical summary This test identifies pathogenic mutations in the TPI1 gene, confirming a diagnosis of triosephosphate isomerase deficiency.
TEST-5810 XDH Gene Xanthinuria Type 1 Genetic Test This test evaluates the XDH gene for pathogenic variants associated with hereditary xanthinuria type I.	Peripheral blood (whole blood) or FTA card specimen	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 XDH gene", "Genetic cause of xanthinuria type I"] Parameters [] Preparation ["No fasting or dietary changes required", "Genetic counselling session required before testing"] Indications ["Diagnosis of hereditary xanthinuria type I", "Evaluation of recurrent kidney stones with low uric acid"] Measurement technique Confirm with laboratory Codes LOINC: 21629-3 ICD-10: E79.8 Clinical summary This test evaluates the XDH gene for pathogenic variants associated with hereditary xanthinuria type I.

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.

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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.