|Downtime form:||A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery|
|Yellow top tube 8.5 mL (ACD solution A)|
Abnormal results should be confirmed using CTSA, Ceramide Trihexosides and Sulfatides, Urine. If molecular confirmation is desired, consider molecular genetic testing of the ARSA gene.
This test is not reliable in identifying carriers due both to analytical variation and unusual genetic variants.
Individuals with pseudodeficiency of arylsulfatase A may have decreased enzyme activity and are not clinically affected with metachromatic leukodystrophy.
Arylsulfatase A is also deficient in individuals with multiple sulfatase deficiency.
This disorder is distinct from conditions caused by deficiencies of arylsulfatase B (Maroteaux-Lamy disease) and arylsulfatase C (steroid sulfatase deficiency).
Leukocyte Lysosomal Enzyme Screen, Whole Blood