Biochemistry
Metabolic Disorders Tests in Dubai & UAE
Investigations in this area, with the specimen type, turnaround time and listed price for each option — so you and your clinician can compare before you book.
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Metabolic Disorders investigations
All 38 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| ACADVL (Very Long-Chain Acyl-CoA Dehydrogenase) Deficiency Genetic Test TEST-5963 LOINC 96538-9 | This test evaluates the ACADVL gene for pathogenic variants associated with Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) deficiency. | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| ADSL Gene Adenylosuccinase Deficiency Test TEST-5967 LOINC 94722-6 | This test evaluates the ADSL gene for pathogenic variants associated with Adenylosuccinase Deficiency, a rare inherited metabolic disorder. | Whole Blood (Peripheral) | 3–4 weeks | 2,800.00 AED | Details |
| Amino Acids Quantitative Panel (Urine & Plasma, 45 Analytes) Test TEST-197 LOINC 24320-4 | This test quantifies 45 amino acids in urine and plasma to screen for and diagnose inborn errors of metabolism. | Urine (first morning) + Plasma (sodium heparin) | 3 working days from sample receipt (Mon/Wed collection) | 1,800.00 AED | Details |
| ARG1 Gene Arginase Deficiency Genetic Test TEST-6008 LOINC 76527-5 | This genetic test identifies pathogenic variants in the ARG1 gene associated with arginase deficiency. | Peripheral whole blood (EDTA or FTA card) | 3–4 weeks from sample receipt | 2,800.00 AED | Details |
| ASL Gene (Argininosuccinic Aciduria) Genetic Test TEST-6013 LOINC 90237-0 | This genetic test identifies pathogenic variants within the ASL gene, confirming or ruling out a diagnosis of Argininosuccinic Aciduria. | Whole Blood (EDTA), Extracted DNA, or FTA Card Dried Blood Spot | 3–4 weeks | 2,800.00 AED | Details |
| BTD Gene (Biotinidase Deficiency) Genetic Test TEST-6039 LOINC 81321-0 | This genetic test evaluates the BTD gene for pathogenic variants associated with biotinidase deficiency. | Whole Blood, Extracted DNA, or FTA Card Blood Spot | 3–4 weeks | 2,800.00 AED | Details |
| DLD Gene Maple Syrup Urine Disease Type 3 Genetic Test TEST-6037 LOINC 86900-3 | This test evaluates the DLD gene for pathogenic variants associated with Maple Syrup Urine Disease Type 3. | Peripheral Whole Blood (Venous) | 3–4 Weeks | 2,800.00 AED | Details |
| GALK1 Gene Galactokinase Deficiency Genetic Test TEST-6311 LOINC 82304-8 | This genetic test identifies pathogenic variants in the GALK1 gene, confirming galactokinase deficiency (galactosemia type II). | Whole Blood (EDTA tube), Extracted DNA, or FTA Card | 3–4 Weeks | 2,800.00 AED | Details |
| GAMT Gene (Guanidinoacetate Methyltransferase Deficiency) Next‑Generation Sequencing Genetic Test TEST-6252 LOINC 84591-3 | This genetic test evaluates the GAMT gene for mutations causing guanidinoacetate methyltransferase deficiency. | Whole blood (EDTA) or dried blood spot (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| GBE1 Gene Glycogen Storage Disease Type IV Genetic Test TEST-6338 LOINC 50397-9 | This test identifies pathogenic mutations in the GBE1 gene, confirming a diagnosis of Glycogen Storage Disease Type IV (Andersen disease). | Whole blood (EDTA) or FTA card | 3-4 weeks | 2,800.00 AED | Details |
| GK Gene Glycerol Kinase Deficiency Genetic Test TEST-6356 LOINC 81321-1 | This test identifies pathogenic variants in the GK gene, confirming a molecular diagnosis of glycerol kinase deficiency. | Peripheral Whole Blood (3–5 mL EDTA), or Buccal Swab, or FTA Card, or Extracted DNA | 3 to 4 Weeks (21–28 days) | 2,800.00 AED | Details |
| GLB1 Gene GM1-Gangliosidosis Type 2 Genetic Test TEST-6256 LOINC 101655-8 | This genetic test identifies pathogenic variants in the GLB1 gene associated with GM1-gangliosidosis type 2, a rare autosomal recessive lysosomal stor... | Whole Blood (EDTA, 3–5 mL), Extracted DNA (minimum 2 µg), or FTA Card | 3 to 4 Weeks from sample receipt | 2,800.00 AED | Details |
| GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 Genetic Test TEST-6177 LOINC 82203-5 | This genetic test identifies pathogenic variants in the GLUD1 gene associated with congenital hyperinsulinism-hyperammonemia syndrome. | Peripheral Whole Blood | 3 – 4 Weeks | 2,800.00 AED | Details |
| GLUL Gene Glutamine Deficiency, Congenital Test TEST-6344 LOINC 88990-2 | This genetic test identifies mutations in the GLUL gene responsible for congenital glutamine synthetase deficiency. | Peripheral Blood (Whole Blood – EDTA) | 15–21 Business Days | 2,800.00 AED | Details |
| GLYCTK Gene D-Glyceric Aciduria Genetic Test TEST-6313 LOINC 68527-6 | This genetic test analyzes the GLYCTK gene to detect pathogenic variants associated with D-glyceric aciduria. | Peripheral Whole Blood (3–5 mL EDTA) or FTA card (finger-prick dried blood spot) | 3–4 Weeks | 2,800.00 AED | Details |
| GNPTG Gene Mucolipidosis Type III Gamma Genetic Test TEST-6001 LOINC 87436-6 | This test detects pathogenic variants in the GNPTG gene associated with mucolipidosis type III gamma (pseudo-Hurler polydystrophy). It provides a defi... | Peripheral whole blood (EDTA), extracted DNA, or dried blood spot on DNA FTA card | 3–4 Weeks | 2,800.00 AED | Details |
| GNS Gene Mucopolysaccharidosis Type 3D (MPS 3D) Genetic Test TEST-5935 LOINC 82373-7 | This test evaluates the GNS gene for pathogenic variants associated with Sanfilippo syndrome type D (MPS 3D). It identifies mutations causing this pro... | Whole blood (EDTA), extracted DNA, or FTA blood spot | 3 to 4 weeks from sample receipt | 2,800.00 AED | Details |
| HHH Syndrome (Hyperornithinemia-Hyperammonemia-Homocitrullinuria) Test TEST-1517 LOINC 48796-5 | This diagnostic test evaluates urinary levels of ornithine, ammonia, and homocitrulline to identify HHH syndrome. | Urine | 5 working days | 1,500.00 AED | Details |
| HLCS Gene Holocarboxylase Synthetase Deficiency Genetic Test TEST-6283 LOINC 82939-0 | 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 | Details |
| HMGCS2 Gene (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency) Genetic Test TEST-6018 LOINC 93356-4 | 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 | Details |
| HPD Gene Tyrosinemia Type 3 Genetic Test TEST-5763 LOINC 101368-9 | 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 | Details |
| HYAL1 Gene Mucopolysaccharidosis Type 9 (MPS IX) Genetic Test TEST-5980 LOINC 94027-8 | 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 | Details |
| IDH2 Gene D‑2‑Hydroxyglutaric Aciduria Type 2 Genetic Test TEST-6308 LOINC 92894-3 | 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 | Details |
| IMD Panel Quantitative Blood Test (Inborn Errors of Metabolism) TEST-1720 LOINC 65721-0 | 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 | Details |
| Isovaleric Acidemia (IVD) Gene Genetic Test TEST-6145 LOINC 87541-2 | 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 | Details |
| LIPA Gene Cholesteryl Ester Storage Disease Genetic Test TEST-6111 LOINC 74694-2 | 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 | Details |
| MAT1A Gene Methionine Adenosyltransferase Deficiency (Autosomal Recessive) Genetic Test TEST-5100 LOINC 94673-4 | This test identifies pathogenic variants in the MAT1A gene, confirming the genetic basis for autosomal recessive methionine adenosyltransferase defici... | Peripheral whole blood (EDTA), or buccal swab (FTA card) | 3–4 weeks | 2,800.00 AED | Details |
| Metachromatic Leukodystrophy Quantitative Blood Test TEST-2509 LOINC 25415-9 | 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 | Details |
| OTC Gene Ornithine Transcarbamylase Deficiency Genetic Test TEST-5905 LOINC 92815-3 | 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 | Details |
| PCK1 Gene Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic Genetic Test TEST-5884 LOINC 55233-1 | 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 | Details |
| Pyruvate (Pyruvic Acid) Blood Test TEST-2983 LOINC 2648-6 | 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 | Details |
| SCNN1A Gene Bronchiectasis with or without Elevated Sweat Chloride Type 2 Genetic Test TEST-6151 LOINC 84415-0 | 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 | Details |
| SGSH Gene Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome) Genetic Test TEST-5995 LOINC 21631-1 | This test identifies pathogenic variants in the SGSH gene, confirming a diagnosis of Mucopolysaccharidosis Type IIIA (Sanfilippo A Syndrome) or determ... | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | 3 to 4 Weeks | 2,800.00 AED | Details |
| SLC25A15 Gene HHH Syndrome NGS Test TEST-6164 LOINC 55233-1 | 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 | Details |
| SLC6A19 Gene (Hartnup Disorder) Genetic Test TEST-6310 LOINC 85661-7 | 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 | Details |
| SLC7A5 Gene (Phenylketonuria Modifier) Genetic Test TEST-5951 LOINC 48508-4 | This genetic test evaluates the SLC7A5 gene for variants that modify the severity of phenylketonuria (PKU). It helps guide personalized dietary manage... | Peripheral whole blood (EDTA) or extracted genomic DNA | 3–4 weeks | 2,800.00 AED | Details |
| Sphingolipidosis Panel 2 Test TEST-3147 LOINC 21046-5 | This diagnostic test evaluates lysosomal enzyme activities in whole blood to identify specific sphingolipid storage disorders. | Whole blood | 4 working days | 900.00 AED | Details |
| Succinylacetone Blood Test TEST-3195 LOINC 104570-3 | 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 | Details |
Clinical overview
About Metabolic Disorders
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.
Before your appointment
Preparation & sample collection
Follow the instructions you are given
Fasting, timing and medicine restrictions differ between investigations. The instructions for your specific request are confirmed when you book.
Bring your identification
A valid photo ID is required at collection so that your sample is matched correctly to your record.
Tell us about medicines
Prescription medicines, supplements and recent procedures can affect how an investigation is scheduled or interpreted — please mention them.
Ask before collection
If anything about preparation is unclear, contact us before your appointment. Preparation errors can affect reporting times.
Patient information
Frequently asked questions
Practical answers about Metabolic Disorders testing at DNA Labs UAE. This information is general and does not replace advice from your treating clinician.
How do I choose the right Metabolic Disorders test?
The correct investigation depends on what your clinician is trying to establish. Review the specimen type and turnaround time below, then confirm the choice with your treating doctor before booking.
What specimen is required?
Specimen requirements are listed for each investigation. If a request involves more than one sample type, our team will confirm what is needed at the time of booking.
Do you offer home sample collection in Dubai and the UAE?
Yes. Home collection can be arranged across Dubai and the wider UAE. Availability and appointment windows vary by location, so please confirm when you book.
How long do results take?
Turnaround depends on the investigation and the method used. The expected reporting time is confirmed with you before collection.
Is there anything I need to do before sample collection?
Some investigations require fasting, a specific collection time, or avoiding certain medicines or activities. Preparation details are shared when you book — please follow them and ask if anything is unclear.
How will I receive my report?
Reports are issued as secure digital documents and can be shared with your referring clinician on request. Please review results with a qualified clinician who can interpret them in context.
About this clinical information
The information on this Metabolic Disorders page describes laboratory investigations in general terms. It is written to help you understand what an investigation involves — it is not a diagnosis and it is not a substitute for advice from your treating clinician.
- Investigation names, specimen types and listed prices are reviewed against laboratory records.
- Preparation guidance is indicative — confirm test-specific instructions before collection.
- Content is updated when investigations, methods or reporting formats change.
- Results are released to the patient and, on request, shared with the referring clinician.
Medical disclaimer: This page is for general information and education only. It is not medical advice, diagnosis or treatment, and it does not replace a consultation with a qualified healthcare professional. Always seek the advice of your doctor or another qualified provider with any questions about a medical condition or before ordering a test.
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Need help choosing a Metabolic Disorders test?
Tell us what your clinician has requested and we'll confirm availability, price, preparation and the most convenient collection option — including home collection in Dubai and across the UAE.
- Home collection available across the UAE
- Digital reports delivered securely
- Confidential handling of every request
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