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Test Code Billings Clinic: 8956 Mayo: ARSU Arylsulfatase A, 24 Hour, Urine

Reporting Name

Arylsulfatase A, U

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Detection of arylsulfatase A deficiency using urine specimens

 

This test is not suitable for carrier detection.

Method Name

Colorimetric, Enzyme Assay


Ordering Guidance


The preferred test to rule-out metachromatic leukodystrophy is ARSAW / Arylsulfatase A, Leukocytes.



Shipping Instructions


Specimen must be received at least 1 day prior to assay day for processing.



Necessary Information


24-Hour volume (in milliliters) is required.



Specimen Required


Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL tube

Specimen Volume: 6 mL

Collection Instructions:

1. Collect a 24-hour urine specimen.

2. No preservative.

3. Refrigerate specimen during collection.

Additional Information: See Urine Preservatives-Collection and Transportation for 24-Hour Urine Specimens for multiple collections.


Specimen Type

Urine

Specimen Minimum Volume

2.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Refrigerated 14 days

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

≥19 nmol/h/mL

Note: Results from this assay may not reflect carrier status because of individual variation of arylsulfatase A enzyme levels. Low normal values may be due to the presence of pseudodeficiency or carrier alleles. Patients with these depressed levels may be phenotypically normal.

Interpretation

Reduced levels of arylsulfatase A are seen in patients with metachromatic leukodystrophy (MLD).

 

Individuals with pseudodeficiency of arylsulfatase A can have results in the affected range but are otherwise unaffected with MLD.

 

Abnormal results should be confirmed using CTSA / Ceramide Trihexosides and Sulfatides, Urine. If molecular confirmation is desired, consider molecular genetic testing of ARSA (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify Gene List ID: IEMCP-WHFH2K).

Day(s) Performed

Tuesday

Report Available

9 to 16 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

84311

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ARSU Arylsulfatase A, U 42726-0

 

Result ID Test Result Name Result LOINC Value
8777 Arylsulfatase A, U 42726-0
37423 Interpretation (ARSU) 59462-2
37413 Reviewed By 18771-6

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Urine Preservative Collection Options

Note: The addition of preservative or application of temperature controls must occur within 4 hours of completion of the collection.

Ambient

No

Refrigerate

Required

Frozen

No

50% Acetic Acid

No

Boric Acid

No

Diazolidinyl Urea

No

6M Hydrochloric Acid

No

6M Nitric Acid

No

Sodium Carbonate

No

Thymol

No

Toluene

No