Test Catalog

Test ID: ARSAW    
Arylsulfatase A, Leukocytes

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

Preferred test for detection of metachromatic leukodystrophy

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

Preferred test to rule-out metachromatic leukodystrophy. Not reliable in identifying carriers due to analytical variation and unusual genetic variants.

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 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, Leukocytes

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

ARSA Deficiency
Arylsulfatase A Deficiency
Metachromatic Leukodystrophy
MLD
WBC Aryl Sulfatase A
Arylsulfatase A (WBC)