Test Code LAB3065 Galactocerebrosidase (Krabbe)
Clinical System Name
Galactocerebrosidase (Krabbe)
Synonyms
B-galactocerebrosidase
GalCer Kr
Krabbe Disease
Sample Requirements
Specimen: Whole Blood
Container(s): Yellow/ACD A or B
Preferred Vol:6.0 mL
Minimum Vol:4.0 mL ACD
Note: Also acceptable: cultured cells from skin fibroblasts (2 confluent T-25 flasks)
Do NOT use gel separator tubes.
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: RT
Storage location: Biochemical Genetics Box- RT
Processing on weekends: 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 | 6 d |
| Refrigerated | 6 d | |
| Frozen | N |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | weekly | 10 - 14 d |
Contact the Biochemical Genetics Lab for requests outside stated availability (206)987-2216.
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
Methodology
Method: Enzymatic, product detection by LC-MS/MS
Analytical Volume:
Limitations:
Reference Range
Reference range for WBC or fibroblasts > 0.24 nmol/hr/mg protein
CPT Codes
82657
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)