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Test ID: ARSU    
Arylsulfatase A, 24 Hour, Urine

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Useful For Suggests clinical disorders or settings where the test may be helpful

Detection of arylsulfatase A deficiency using urine specimens

 

This test is not suitable for carrier detection.

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Metachromatic leukodystrophy (MLD) is caused by deficient activity of arylsulfatase A (ARSA) enzyme and is characterized by progressive neurologic changes and leukodystrophy with variable age of onset.

 

Pseudodeficiency of arylsulfatase A (ARSA) enzyme has been recognized with increasing frequency among patients with other apparently unrelated neurologic conditions as well as among the general population.

 

This test is not suitable for carrier detection.

 

Leukocytes are the preferred screening specimen for metachromatic leukodystrophy.

 

Additional studies, such as molecular genetic testing of ARSA (ARSAZ / ARSA Gene, Full Gene Analysis, Varies), urinary excretion of sulfatides (CTSA / Ceramide Trihexosides and Sulfatides, Urine), and histological analysis for metachromatic lipid deposits in nervous system tissue are recommended to confirm a diagnosis.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Lysosomal Storage Disorders Diagnostic Algorithm, Part 2 in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Colorimetric, Enzyme Assay

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Arylsulfatase A, U

Aliases Lists additional common names for a test, as an aid in searching

ARSA Deficiency
Arylsulfatase A Deficiency
Metachromatic Leukodystrophy
MLD