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Test Code LAB3065 Galactocerebrosidase (Krabbe)

Important Note

This test was brought in-house on 10/3/2020 (previously sent to Lysosomal Diseases Testing Laboratory).

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)