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Order Code ARSBW Arylsulfatase B, Leukocytes


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.



Necessary Information


1. Patient's age is required.

2. Reason for testing is required.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


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.

Useful For

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens

 

This test is not useful for carrier detection for MPS VI.

Genetics Test Information

This test provides diagnostic testing for individuals with clinical signs and symptoms suspicious for mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome). If an enzyme deficiency is detected by this test, additional biochemical or molecular testing is required to confirm a diagnosis.

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

Arylsulfatase B, WBC

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject

Reference Values

>0.34 nmol/h/mg protein

 

An interpretive report will be provided.

Method Description

Leukocytes are incubated with four cocktail mixes in 96-well plates: 1) substrate and internal standard (IS) for iduronate 2-sulfatase, heparan N-sulfatase, alpha-N-acetylglucosaminidase, N-acetylgalactosamine-sulfate, beta-galactosidase, arylsulfatase B, beta-glucuronidase, and tripeptidyl peptidase 1; 2) substrate and IS for acetyl-CoA:alpha-glucosaminide N-acetyltransferase; 3) substrate and IS for N-acetylglucosamine-6-sulfatase; and 4) substrate and IS for palmitoyl-protein thioesterase 1. Following overnight incubation, the plates are combined and purified by liquid-liquid extraction. The extracts are evaporated, reconstituted with mobile phase, and analyzed by tandem mass spectrometry.(Unpublished Mayo method)

Day(s) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ARSBW Arylsulfatase B, WBC 24094-5

 

Result ID Test Result Name Result LOINC Value
BG761 Reason for Referral 42349-1
616835 Arylsulfatase B 24094-5
618450 Interpretation 59462-2
618449 Reviewed By 18771-6