Lysosomal Storage Disorders tests in Dubai & UAE

Compare available Lysosomal Storage 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

550.00–2,800.00 AED

Clinical preparation

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Lysosomal Storage Disorders test prices

Showing 1–4 of 4 matching tests.

Lysosomal Storage Disorders diagnostic tests, details, and listed prices
Test and description	Specimen	Typical duration	Price	Options
TEST-1338 GM2 Gangliosidosis Quantitative Blood Test (Tay-Sachs & Sandhoff Disease) This diagnostic test evaluates the activity levels of hexosaminidase A and total hexosaminidase enzymes in whole blood.	Whole Blood	4 Working Days	550.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Hexosaminidase A enzyme activity", "Total hexosaminidase enzyme activity"] Parameters [{"name": "Hexosaminidase A", "reference_range": null}, {"name": "Total Hexosaminidase", "reference_range": null}] Preparation ["No specific fasting required", "Maintain all prescribed medications"] Indications ["Symptomatic infants and children with suspected GM2 gangliosidosis", "Carrier testing for at-risk couples", "Pre-symptomatic testing", "Confirmation following newborn screening"] Measurement technique Confirm with laboratory Codes LOINC: 24066-2 ICD-10: E75.00, E75.01, E75.02, Z14.8 Clinical summary This diagnostic test evaluates the activity levels of hexosaminidase A and total hexosaminidase enzymes in whole blood.
TEST-5822 IDUA Gene Scheie Syndrome Genetic Test This test analyzes the IDUA gene for mutations associated with Scheie syndrome (Mucopolysaccharidosis type I). It uses Next-Generation Sequencing (NGS) to detect pathogenic variant...	Whole Blood (EDTA), Extracted DNA, or FTA Card (Dried Blood Spot)	3–4 Weeks	2,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["IDUA gene pathogenic variants", "Coding exons and splice sites"] Parameters [] Preparation ["Detailed clinical history required", "Formal genetic counselling session required"] Indications ["Clinical features suggestive of Scheie syndrome", "Family screening for MPS I", "Early therapeutic intervention"] Measurement technique Confirm with laboratory Codes LOINC: 94306-8 ICD-10: E76.03 Clinical summary This test analyzes the IDUA gene for mutations associated with Scheie syndrome (Mucopolysaccharidosis type I). It uses Next-Generation Sequencing (NGS) to detect pathogenic variants.
TEST-2927 Pompe Disease Quantitative Blood Test This diagnostic test evaluates the activity level of the acid α-glucosidase (GAA) enzyme in whole blood.	Whole blood (EDTA or lithium heparin)	4 working days	700.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Acid α-glucosidase (GAA) enzyme activity"] Parameters [{"name": "Acid α-glucosidase (GAA) Enzyme Activity", "reference_range": null}] Preparation ["No specific fasting required", "Continue all prescribed medications"] Indications ["Suspicion of Pompe disease (Glycogen Storage Disease Type II)", "Evaluation of muscle weakness", "Assessment of cardiomyopathy", "Investigation of respiratory insufficiency"] Measurement technique Confirm with laboratory Codes LOINC: 24617-9 ICD-10: E74.02 Clinical summary This diagnostic test evaluates the activity level of the acid α-glucosidase (GAA) enzyme in whole blood.
TEST-3150 Sphingolipidosis Panel 1 Test This diagnostic test evaluates lysosomal enzyme activity in whole blood to screen for Gaucher, Fabry, and Niemann-Pick diseases.	Whole Blood (peripheral venous)	4 working days (sample cut-off 4 pm daily)	1,800.00 AED	View
View test specifications and preparation Hide test specifications and preparation What it measures ["Lysosomal enzyme activity (glucocerebrosidase, alpha-galactosidase, sphingomyelinase)", "Sphingolipid metabolism"] Parameters [{"name": "Glucocerebrosidase Activity", "reference_range": null}, {"name": "Alpha-galactosidase Activity", "reference_range": null}, {"name": "Sphingomyelinase Activity", "reference_range": null}] Preparation ["No specific fasting required.", "No medication or diet restrictions unless advised by a physician."] Indications ["Screening for Gaucher disease", "Screening for Fabry disease", "Screening for Niemann-Pick diseases", "Evaluation of suspected lysosomal storage disorders in neonates and children"] Measurement technique Confirm with laboratory Codes LOINC: 47828-9 ICD-10: E75.2 Clinical summary This diagnostic test evaluates lysosomal enzyme activity in whole blood to screen for Gaucher, Fabry, and Niemann-Pick diseases.

Category overview

Lysosomal Storage Disorders: overview

Navigating the complexities of rare inherited conditions can be overwhelming, but precise diagnostic answers provide the crucial first step toward proactive management. As an advanced subspecialty within our Biochemistry department, testing for Lysosomal Storage Disorders evaluates specific enzyme deficiencies that impact cellular waste disposal. Utilizing state-of-the-art diagnostic technology, this specialized lysosomal screening helps uncover rare metabolic conditions, offering the definitive clarity needed to safely guide personalized medical care and genetic counseling. Recognized for excellence among diagnostic labs in the UAE, DNA Labs guarantees strict patient confidentiality, uncompromising diagnostic accuracy, and rapid reporting for sensitive cases. Empower your family's healthcare journey—book your lysosomal storage disorders testing in UAE, arrange a secure home sample collection, or consult our dedicated medical experts 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.