Metabolic Genetic Disorders tests in Dubai & UAE

Compare available Metabolic Genetic 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 AED

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Metabolic Genetic Disorders test prices

Showing 1–11 of 11 matching tests.

Metabolic Genetic Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-6226 AASS Gene Hyperlysinemia Type 1 Genetic Test This test identifies pathogenic variants within the AASS gene, confirming a diagnosis of Hyperlysinemia Type 1.	Peripheral whole blood	21–28 calendar days 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 AASS gene", "Coding region and intron-exon boundaries of the AASS gene"] Parameters [] Preparation ["No special fasting or dietary preparation required"] Indications ["Suspected Hyperlysinemia Type 1", "Persistently elevated plasma lysine", "Family history of Hyperlysinemia Type 1", "Carrier testing in relatives of affected individuals"] Measurement technique Confirm with laboratory Codes LOINC: 21636-6 ICD-10: E72.3 Clinical summary This test identifies pathogenic variants within the AASS gene, confirming a diagnosis of Hyperlysinemia Type 1.
TEST-6387 ABAT Gene GABA-Transaminase Deficiency Genetic Test This genetic test identifies pathogenic variants within the ABAT gene, confirming or ruling out GABA-transaminase deficiency.	Whole Blood (Peripheral)	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 ABAT gene", "GABA-transaminase deficiency"] Parameters [] Preparation ["No specific fasting required", "Inform lab of any medications"] Indications ["Symptomatic paediatric and adult patients", "At-risk family members", "Proactive carrier screening"] Measurement technique Confirm with laboratory Codes LOINC: 94853-3 ICD-10: E72.89 Clinical summary This genetic test identifies pathogenic variants within the ABAT gene, confirming or ruling out GABA-transaminase deficiency.
TEST-6161 ALPL Gene Hypophosphatasia (Childhood-Onset) Genetic Test This genetic test identifies pathogenic variants in the ALPL gene associated with childhood-onset hypophosphatasia.	Peripheral blood (3–5 mL EDTA) or FTA card	3 – 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ALPL gene sequence", "Copy number variations in ALPL gene"] Parameters [] Preparation ["No specific fasting required", "Inform lab of recent blood transfusions or active infections"] Indications ["Suspected childhood-onset hypophosphatasia", "Family history of hypophosphatasia", "Low serum alkaline phosphatase with skeletal abnormalities"] Measurement technique Confirm with laboratory Codes LOINC: 83238-2 ICD-10: E83.39 Clinical summary This genetic test identifies pathogenic variants in the ALPL gene associated with childhood-onset hypophosphatasia.
TEST-5978 AMPD1 Gene Myopathy Due to Myoadenylate Deaminase Deficiency Test This test identifies pathogenic variants in the AMPD1 gene, confirming myoadenylate deaminase deficiency.	Whole Blood, Extracted DNA, or One Drop on 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 AMPD1 gene", "Myoadenylate deaminase enzyme deficiency"] Parameters [{"name": "AMPD1 Gene Sequencing", "reference_range": "No pathogenic variants detected"}] Preparation ["Genetic counselling session & pedigree charting required", "No fasting or special diet required"] Indications ["Patients with symptoms suggestive of MADD", "Differential diagnosis of exertional muscle disorders"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: E79.8 Clinical summary This test identifies pathogenic variants in the AMPD1 gene, confirming myoadenylate deaminase deficiency.
TEST-6212 ASS1 Gene Citrullinemia Genetic Test This test identifies mutations in the ASS1 gene associated with citrullinemia type I, a urea cycle disorder.	Whole blood (EDTA) or FTA card (dried blood spot)	3 to 4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["ASS1 gene pathogenic variants", "Urea cycle disorder risk"] Parameters [] Preparation ["Do not discontinue prescribed treatments", "Inform physician of recent blood transfusions"] Indications ["Suspected citrullinemia type I", "Family history of urea cycle disorders", "Carrier screening"] Measurement technique Confirm with laboratory Codes LOINC: 76016-2 ICD-10: E72.2 Clinical summary This test identifies mutations in the ASS1 gene associated with citrullinemia type I, a urea cycle disorder.
TEST-6147 BCAT2 Gene Branched-Chain Aminotransferase 2 Deficiency Genetic Test This genetic test identifies pathogenic variants in the BCAT2 gene associated with branched-chain aminotransferase 2 deficiency.	Whole blood, FTA card blood spot, or extracted DNA	3–4 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 BCAT2 gene"] Parameters [] Preparation [] Indications ["Individuals with unexplained metabolic symptoms", "Family history of BCAT2 deficiency", "Proactive health and longevity strategies"] Measurement technique Confirm with laboratory Codes LOINC: 94233-3 ICD-10: E71.8 Clinical summary This genetic test identifies pathogenic variants in the BCAT2 gene associated with branched-chain aminotransferase 2 deficiency.
TEST-6042 CAT Gene Acatalasemia Genetic Test This test evaluates the entire CAT gene for pathogenic variants associated with Acatalasemia (Catalase Deficiency).	Peripheral Whole Blood (EDTA), Extracted DNA, or FTA Card	3–4 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 CAT gene", "Catalase enzyme activity (indirectly via genetic analysis)"] Parameters [] Preparation ["No fasting required", "No medication changes needed", "Avoid blood transfusions for 2 weeks prior"] Indications ["Suspected Acatalasemia based on clinical presentation", "Family history of Acatalasemia", "Carrier screening for family members"] Measurement technique Confirm with laboratory Codes LOINC: 101826-7 ICD-10: E88.0, Z15.89, Z13.79 Clinical summary This test evaluates the entire CAT gene for pathogenic variants associated with Acatalasemia (Catalase Deficiency).
TEST-6102 FGF23 Gene Analysis for Autosomal Dominant Hypophosphatemic Rickets (NGS) Test This test evaluates the FGF23 gene for mutations associated with autosomal dominant hypophosphatemic rickets (ADHR).	Whole blood (EDTA), extracted DNA, or dried blood spots (FTA card)	3 to 4 weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["FGF23 gene sequence", "Gain-of-function mutations"] Parameters [] Preparation [] Indications ["Family history of childhood rickets", "Unexplained hypophosphatemia", "Metabolic bone disease", "Confirmation of ADHR diagnosis"] Measurement technique Confirm with laboratory Codes LOINC: 104933-8 ICD-10: E83.31, E83.30 Clinical summary This test evaluates the FGF23 gene for mutations associated with autosomal dominant hypophosphatemic rickets (ADHR).
TEST-5556 PC Gene (Pyruvate Carboxylase Deficiency) Next‑Generation Sequencing (NGS) Test This test evaluates the PC gene for pathogenic variants associated with pyruvate carboxylase deficiency.	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 ["PC gene coding region", "Point mutations", "Indels", "Copy number variations"] Parameters [] Preparation ["No fasting required", "No medication changes required", "Pre-test genetic counseling session mandatory", "Complete pedigree chart"] Indications ["Suspected pyruvate carboxylase deficiency", "Neonatal metabolic acidosis", "Neurodevelopmental regression", "Leigh-like syndrome"] Measurement technique Confirm with laboratory Codes LOINC: 76518-2 ICD-10: E74.4 Clinical summary This test evaluates the PC gene for pathogenic variants associated with pyruvate carboxylase deficiency.
TEST-5849 PC Gene Pyruvate Carboxylase Deficiency Genetic Test This genetic test analyzes the PC gene for mutations associated with pyruvate carboxylase deficiency, a metabolic disorder.	Whole Blood, Extracted DNA, or One Drop Blood on FTA Card	3 – 4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Point mutations", "Small indels", "Full gene coverage of PC gene"] Parameters [] Preparation ["Genetic counselling is mandatory before sample collection.", "Patients must not discontinue prescribed metabolic therapy (e.g., biotin) prior to or following sample collection."] Indications ["Suspected pyruvate carboxylase deficiency", "Family history of metabolic disorders", "Need for definitive molecular diagnosis", "Family planning"] Measurement technique Confirm with laboratory Codes LOINC: 82620-1 ICD-10: E74.4, Z13.79, Z14.8 Clinical summary This genetic test analyzes the PC gene for mutations associated with pyruvate carboxylase deficiency, a metabolic disorder.
TEST-5845 PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test This genetic test identifies pathogenic variants in the PDHB gene associated with pyruvate dehydrogenase E1-beta deficiency.	Whole Blood	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 PDHB gene", "Copy-number variants", "Deep intronic variants"] Parameters [] Preparation ["Documented clinical evaluation", "Pre-test genetic counseling session", "Family pedigree construction"] Indications ["Clinical suspicion of PDH deficiency", "Biochemical evidence suggesting PDH deficiency", "Family history of PDH deficiency"] Measurement technique Confirm with laboratory Codes LOINC: 81247-9 ICD-10: E74.4 Clinical summary This genetic test identifies pathogenic variants in the PDHB gene associated with pyruvate dehydrogenase E1-beta deficiency.

Category overview

Metabolic Genetic Disorders: overview

Understanding the broader hereditary landscape of your body's energy production empowers you to manage chronic multi-system symptoms and make highly informed health decisions. Representing an expansive offering within our advanced Genetics services, testing for Metabolic Genetic Disorders evaluates a comprehensive panel of genes associated with rare, inherited biochemical conditions. Utilizing state-of-the-art genomic profiling technology, this robust screening uncovers elusive genetic drivers, delivering the exact clarity required to safely guide specialized multidisciplinary care, targeted preventative strategies, and informed family planning. Trusted for preventative diagnostic excellence across premier diagnostic labs in Dubai and the UAE, DNA Labs ensures strict patient confidentiality, uncompromising diagnostic accuracy, and incredibly prompt reporting. Prioritize your physiological wellness—book your metabolic genetic disorders testing in UAE, arrange a secure clinical sample collection, or reach out to our expert medical genetics professionals 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.