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Test Code Aryl B Arylsulfatase B

Clinical System Name

Arylsulfatase B (MPS VI)

Synonyms

MPS VI

Maroteaux-Lamy

Description

Spectrophotometric enzyme assay using p-nitrocatechol sulfate as substrate and detection at 516 nm.

Sample Requirements

Specimen: Whole Blood

Container(s): Yellow/ACD A or B, Dark Green/Sodium Heparin Tube

Preferred Vol:10.0 mL

Minimum Vol: 6.0 mL

 

Do NOT use gel separator tubes.

 

Note: Also acceptable: cultured cells from skin fibroblasts (2 confluent T-25 flasks).

 

Processing Instructions

Reject due to:

Spin: N

Aliquot:N

Temp:RT

Storage location: Biochemical Genetics Box- RT

Weekend Processing: Contact Chem West (x72565) on dayshift. If Chemistry team is unavailable, sample should be stored in RT Biochemical Genetics box.

 

Off-site collection: Do not spin!  Keep at room temperature.  Transport Mon-Thurs at room temperature via overnight shipping.

Stability

Specimen Type Temperature Time
whole blood Room temp

≤24 hrs

  Refrigerated <24 hrs

Samples received > 24 hr after blood collection will still be processsed and test performed if possible.

Availability

STAT Performed TAT
N Weekly 7-10 days

 

Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.

Performing Laboratory

Seattle Children's Laboratory    

Department

Department:  Biochemical Genetics

Phone Number: 206-987-2216

 

 

Reference Range

 

Specimen Type Normal Range (nmol/hr/mg protein)

WBC

30-425
FB (Fibroblast) 22-274

 

Methodology

Method: Spectrophotometry

Analytical Volume:

Limitations:

CPT Codes

82657

Requisition

Biochemical Genetics Requisition

 

On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)

Clinical Utility

For confirmation of Maroteaux-Lamy (MPS VI), an autosomal recessive MPS storage disorder characterized by elevated muopolysaccharide excretion with dermatan sulfate. The clinical manifestations include dysostosis multiplex and corneal clouding, often with normal intelligence.