Genetics
Inherited 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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- Home collection across the UAE
- Confidential handling of results
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Inherited Metabolic Disorders investigations
All 23 investigations in this category are listed below.
| Test | What it measures | Specimen | Turnaround | Price | Book |
|---|---|---|---|---|---|
| AGL Gene Glycogen Storage Disease Type 3 Genetic Test TEST-6376 LOINC 89952-7 | This test identifies pathogenic variants in the AGL gene, confirming a diagnosis of Glycogen Storage Disease Type III (Cori Disease). It analyzes the... | Whole blood (EDTA) – 3-5 mL | 21 to 28 calendar days with interim verbal report at Day 14 | 2,800.00 AED | Details |
| BCAT1 Gene Branched-Chain Aminotransferase 1 Deficiency Genetic Test TEST-6043 LOINC 87712-1 | 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 | Details |
| CA5A Gene Hyperammonemia due to Carbonic Anhydrase VA Deficiency Genetic Test TEST-6211 LOINC 81748-2 | 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 | Details |
| CPS1 Gene (Carbamoylphosphate Synthetase I Deficiency) Genetic Test TEST-6155 LOINC 93397-8 | 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 | Details |
| DBT Gene (Maple Syrup Urine Disease Type 2) Genetic Test TEST-6090 LOINC 21648-5 | 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 | Details |
| DPM2 Gene Analysis Test TEST-6350 LOINC 101387-9 | 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 | Details |
| FH Gene Fumarase Deficiency Genetic Test TEST-6307 LOINC 91846-4 | 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 | Details |
| GBA Gene Gaucher Disease Type 3 Genetic Test TEST-6395 LOINC 90528-6 | 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 | Details |
| GUSB Gene Mucopolysaccharidosis Type VII (MPS VII) Genetic Test TEST-5927 LOINC 94451-4 | This test identifies pathogenic variants in the GUSB gene associated with Mucopolysaccharidosis Type VII (MPS VII). It provides definitive molecular c... | Peripheral Whole Blood (or alternative specimens: Extracted DNA, FTA card) | 3–4 Weeks | 2,800.00 AED | Details |
| LCT Gene Congenital Lactase Deficiency Genetic Test TEST-6137 LOINC 94026-6 | 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 | Details |
| LIAS Gene Pyruvate Dehydrogenase Lipoic Acid Synthetase Deficiency Genetic Test TEST-5841 LOINC 86215-4 | 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 | Details |
| MCEE Gene Methylmalonyl‑CoA Epimerase Deficiency Genetic Test TEST-5976 LOINC 101334-8 | 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 | Details |
| MOGS Gene Glycosylation Disorder Type 2B Genetic Test TEST-6345 LOINC 78925-4 | This test identifies pathogenic variants in the MOGS gene associated with Congenital Disorder of Glycosylation Type IIb (CDG-IIb), a rare autosomal re... | Whole Blood (Peripheral) | 3–4 Weeks | 2,800.00 AED | Details |
| PCCB Gene Propionic Acidemia Genetic Test TEST-5921 LOINC 94498-7 | 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 | Details |
| PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency (Mitochondrial) DNA Test via NGS TEST-5947 LOINC 21636-6 | 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 | Details |
| PEPD Gene Prolidase Deficiency Genetic Test TEST-5925 LOINC 58731-0 | 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 | Details |
| PEX7 Gene (Refsum Disease) Genetic Test TEST-5898 LOINC 94219-9 | 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 | Details |
| QDPR Gene Hyperphenylalaninemia, BH4-Deficient, Type C Genetic Test TEST-6207 LOINC 55233-1 | 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 | Details |
| SARDH Gene Sarcosinemia Genetic Test TEST-5887 LOINC 94222-4 | 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 | Details |
| SLC25A20 Gene (Carnitine-Acylcarnitine Translocase Deficiency) Genetic Test TEST-6165 LOINC 98122-7 | 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 | Details |
| Sphingolipidosis Enzyme Panel (Genetic Test) TEST-5900 LOINC 103213-3 | 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 | Details |
| TPI1 Gene Triosephosphate Isomerase Deficiency Genetic Test TEST-5776 LOINC 81232-6 | 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 | Details |
| XDH Gene Xanthinuria Type 1 Genetic Test TEST-5810 LOINC 21629-3 | 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 | Details |
Clinical overview
About Inherited Metabolic Disorders
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 Inherited 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 Inherited 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 Inherited 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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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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