ARSU - Overview: Arylsulfatase A, 24 Hour, Urine

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Test ID: ARSU    
Arylsulfatase A, 24 Hour, Urine

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

Detection of metachromatic leukodystrophy

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

 

Highlights

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.

 

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

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Colorimetric, Enzyme Assay

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

Yes

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Arylsulfatase A, U

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

ARSA Deficiency
Arylsulfatase A Deficiency
Metachromatic Leukodystrophy
MLD

Key