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Test Code I Cell I Cell, Mucolipidosis type II

Important Note

Includes orders for Arylsulfatase A, plasma (I Cell) and Hexosaminidase A and B (Tay Sachs, Sandhoff) in serum/plasma.

Clinical System Name

I Cell, Mucolipidosis type II

Synonyms

Hexosaminidase

Arylsulfatase A, plasma

Mucolipidosis

 

Description

Enzyme analysis of total hexosaminidase, % hexosaminidase A, and arylsulfatase A in plasma or serum for diagnosis of  I-Cell disease (ML II).

Sample Requirements

Specimen: Whole Blood

Container(s): Dark Green/Sodium Heparin tube, Yellow/ACD A or B, Serum from Gold SST or Red top tubes

Preferred Vol:  2.0 mL

Minimum Vol: 1.0 mL

 

Processing Instructions

Reject due to:

Spin: Y

Aliquot:Y

Temp:-20 C

Storage location: Biochemical Genetics Box -20 C

 

 

Specimen should be spun and aliquoted within 2 hours of collection.

 

 

Off-site collection:  Transport  to Laboratory immediately.

Stability

Specimen Type Temperature Time
Aliquoted Serum/Plasma Refrigerated

7 days

  Freezer (-20 C)-preferred 1 month

 

Availability

STAT Performed TAT
N Weekly 7  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

Total hexosaminidase (serum)

932-1844 nmol/hr/mL
% Hex A 54.7 - 70%
Arylsulfatase A (serum/plasma) 0 - 100 nmol/hr/mL

Carrier testing not performed

Methodology

Method:  Enzymatic/Fluorometric; 4-methylumbelliferyl substrate with heat inactivation, and spectrophotometric.

Analytical Volume:

Limitations:

CPT Codes

83080

Special Instructions

Links to:

Consent Forms

Algorithms

Requisition

Biochemical Genetics Requisition

 

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

Clinical Utility


 

Patients with I Cell disease (mucolipidosis type II) have extreme elevation of serum/plasma total hexosaminidase and arylsulfatase A.

 

Carrier testing by enzyme analysis is not available.