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Test Code GALCW Galactocerebrosidase, Leukocytes

Important Note

CMH COLLECTION: Can only be collected Monday - Thursday 6:00 a.m. - 2:00 p.m. and not the day before or on a holiday.   Must be in the Adele Hall lab by 2:30 p.m.


Ordering Guidance


This test will not detect carrier status. For differentiating alterations from disease-causing variants in affected patients and for carrier detection in family members, molecular sequencing of the GALC gene is necessary. Order KRABZ / Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies.



Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


Children's Mercy Hospital Note:

CMH COLLECTION: 4 mL in ACD Sol B yellow vacutainer

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Testing Algorithm

If the patient has abnormal newborn screening result for Krabbe disease, immediate action should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1,2)

 

The following information is available:

-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase

-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase and Psychosine

Useful For

Diagnosis of Krabbe disease

 

Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease

 

This test is not intended for carrier detection.

Reject Due To

Gross hemolysis Reject

Day(s) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Monday, Wednesday

Report Available

5 to 9 days

Reporting Name

Galactocerebrosidase, WBC

Reference Values

≥0.300 nmol/hour/mg protein

An interpretative report will be provided.

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657