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Test Catalogue

​Beta-Galactocerebrosidase, Dried Blood Spot

Chemistry


Specimen Requirements​ ​

Type​
  • ​Whole blood 
  • The Neonatal Screen Card will be spotted when whole blood is received in the lab
​Container
​Required Volume
  • Optimal Volume: 4.mL whole blood
  • Minimum/ Pediatric Volume:1mL whole blood
    (Submitting the minimum volume makes it impossible to repeat the test or perform confirmatory/reflex testing. In some situations, a minimum volume may require a second collection)
​Stability/Storage
  • ​Whole blood must be received within 24 hours of collection
  • Store whole blood at room temperature 
  • Neonatal Screen Card should be spotted with whole blood within 24 hours of collection Once spotted, the Neonatal Screen Card should be stored at at -20°C or below if held for greater than 48 hours.
Grounds for Rejection​

Testing Information​ ​

Availability​
  • ​Monday to Thursday 0800 – 1400 hours
Testing Site​
  • Referred out by St. Paul's Hospital Laboratory to Greenwood Genetic Center, North Carolina turnaround time by referral laboratory
​Results Reporting
  • 2 week turnaround time by referral laboratory
​Methodology
  • Quantifies level of beta-galactocerebrosidase via the 4-Methylumbelliferyl substrate
​Clinical Interpretation
  • ​Results should be interpreted in the context of patient history, clinical findings and other laboratory data
​Additional Comments
  • Beta-Galactocerebrosidase enzyme activity is useful for the diagnosis of Krabbe disease.
  • Krabbe disease is an autosomal-recessive genetic condition caused by defects in the GALC gene (chromosome 14q31), which encodes the enzyme galactocerebrosidase (GALC). GALC deficiency leads to accumulation of galactolipids within the lysosome, subsequently resulting in defective myelin production and affecting the CNS white matter and myelination of peripheral nerves.  Krabbe disease is classified as infantile- onset or later-onset "classic" disease. The more common infantile form (80-90% of diagnosed patients) presents with irritability, spasticity, and hypertonia in the first months of life with rapid neurologic regression. Death usually occurs before age 2.  Approximately 10-15% of patients present between the first year of life and the fifth decade of life with a variable onset of vision disturbance/loss, weakness and cognitive decline. ( Reference: laboratory diagnosis of inherited metabolic diseases, Edited by Uttam Garg, Laurie D. Smith, Bryce A Heese)
​Alternate Test Names
  • ​Krabbe’s Disease 
  • Globoid cell leukodystrophy
​SHR LIS Test Code
  • ​BGCSD (For Laboratory Use Only)

Testing Ordering Requirements​ ​

Forms Required

Patient History​ ​

​Relevant Clinical History
  • ​Family history 
  • Must include diagnosis and/or patient symptoms on the requisition


​If you choose to print this information, it is valid only on date of print.

Laboratory Controlled Document LSM-380 v3

Last Modified: Wednesday, January 23, 2019 |
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