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, Dark Green/Sodium Heparin Tube
Preferred Vol:10.0 mL
Minimum Vol: 5.0 mL ACD or 7 mL Heparin
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: 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 | 48 h |
Refrigerated | N | |
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
CPT Codes
82657
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
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)