Arylsulfatase A deficiency, leukocytes

Alphabetical Test listing

Arylsulfatase A deficiency, leukocytes-994

Test name:

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

ASA deficiency
Metachromatic leukodystrophy (MLD)
MLD

Useful for:

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.

Specimen type:

ACD (A or B) whole blood

Collection container:

Yellow ACD (A or B)

Volume:

15 mL

Minimum volume:

10 mL

Collection instructions:

Collect specimens Mo - Th only; sample must arrive in the laboratory within 4 days of collection
Immediately following collection, mix by inverting 8 - 10 times to prevent clotting

Transport container:

Yellow ACD (A or B)

Transport and stability:

Refrigerated (strict) - 4 days

Time sensitive; specimen must arrive at the testing laboratory within 4 days of collection.

Reason for rejection:

Quantity not sufficient (QNS) for analysis
Specimen frozen
Specimen not received at the performing laboratory within 4 days of collection
Incorrect specimen collection tube to isolate white blood cells

Performing lab:

LabCorp RTP (402396): R-NX

Days set up:

As needed

TAT:

14 days

Method:

Determination of enzymatic activity with p-nitrocatechol sulfate

Reference ranges:

25.0 - 90.0 nmol/hr/mg protein

CPT codes:

82657

LOINC code:

Result UNLOINC

Date created:

06/03/2019

Revised date:

04/11/2022

Review date:

04/11/2022