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HelpTest Code LAB2817 Arylsulfatase A for I Cell
Clinical System Name
.Arylsulfatase A, plasma
Synonyms
I Cell
Arylsulfatase A, plasma
.Aryl A p
.
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
CPT Codes
83080
Methodology
Method: Enzymatic/Fluorometric; 4-methylumbelliferyl substrate with heat inactivation, and spectrophotometric.
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range <1 yr | Normal Range >1 yr |
|
Total hexosaminidase (serum) |
1080-4400 nmol/hr/mL | 600-1844 nmol/hr/mL |
| % Hex A | 42-73% | 42-73% |
| Arylsulfatase A (serum/plasma) | 0 - 100 nmol/hr/mL |
Carrier testing not performed
Description
Enzyme analysis of total hexosaminidase, % hexosaminidase A, and arylsulfatase A in plasma or serum for diagnosis of I-Cell disease (ML II).
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.