Arylsulfatase A Deficiency, Leukocytes

TEST: 402396
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CPT: 82657
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Synonyms

  • ASA Deficiency
  • Metachromatic Leukodystrophy (MLD)
  • MLD

Special Instructions

Specimens must arrive in the lab within four days of collection.

Expected Turnaround Time

4 - 14 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

Specimen Requirements

Specimen

Whole blood

Volume

15 mL

Minimum Volume

10 mL

Container

Yellow-top (ACD) tube

Collection

Refrigerate after collection. Transport to the testing facility using cool pack or LabCorp transport kit. Do not allow sample to freeze. Sample must arrive in the laboratory within four days of collection.

Storage Instructions

Refrigerate.

Stability Requirements

Temperature

Period

Refrigerated

4 days

Causes for Rejection

Quantity not sufficient for analysis; specimen frozen; specimen not received within four days of collection; incorrect specimen collection tube; gross hemolysis; unable to isolate white blood cells

Test Details

Use

Diagnose patient with metachromatic leukodystrophy (MLD)

Limitations

This assay does not identify patients with a rare form of MLD due to cerebroside sulfate activator protein deficiency. Unaffected pseudodeficiency homozygotes and compound heterozygotes cannot be distinguished from affected individuals by this assay. ASA activity may not reflect carrier status.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).

Methodology

Determination of enzymatic activity with p-nitrocatechol sulfate

Reference Interval

25.0−90.0 nmol/hour/mg protein

References

Shapira E, Blitzer MG, Miller JB, et al. Biochemical Genetics: A Laboratory Manual. New York, NY: Oxford University Press;1989.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
402396 Arylsulfatase A Deficiency 24078-8 402397 Arylsulfatase A activity nmol/hr/mg prt 24078-8
402396 Arylsulfatase A Deficiency 24078-8 402398 Interpretation N/A
402396 Arylsulfatase A Deficiency 24078-8 402401 Director Review N/A
402396 Arylsulfatase A Deficiency 24078-8 402399 Methodology N/A
402396 Arylsulfatase A Deficiency 24078-8 402308 Disclaimer: N/A

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