Arylsulfatase A (Metachromatic Leukodystrophy)
Metachromatic leukodystrophy is caused by a deficiency of
arylsulfatase A, an enzyme crucial to the breakdown of sulfatides in the body.
Metachromatic leukodystrophy should be considered in any individual with
progressive neurological dysfunction and MRI evidence of a leukodystrophy. This
condition can present in late-infantile, juvenile and adult forms.
Specimen requirements: Arylsulfatase A can be measured
from leukocytes or fibroblasts.
Transport: Sample for leukocyte study must arrive at
the laboratory within 24 hours of blood draw. Please contact the laboratory
before transporting tissue for an enzyme assay. Fresh tissue for culture should
be sent by courier or 24-hour delivery
Standard of analysis: Measurement of enzyme activity
Time required: Most assays will be complete in one week
Special requests: Any type of special request must be made directly with the
laboratory.
Report: Written reports with interpretation are mailed
to the referring physician. Abnormal results will also be telephoned to the
referring physician.
CPT Code: 82657 |
