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Test ID GALCB Galactocerebrosidase, Blood Spot


Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Card-Blood Spot Collection (Filter Paper)

Acceptable: PerkinElmer 226 (formerly Ahlstrom 226) filter paper, Munktell filter paper, Whatman Protein Saver 903 paper, or blood collected in tubes containing ACD, EDTA, or heparin and dried on acceptable filter paper

Specimen Volume: 2 blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year of age is fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick: https://vimeo.com/508490782 .

2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

3. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Forms

Biochemical Genetics Patient Information (T602) in Special Instructions

Useful For

Evaluation of patients with a clinical presentation suggestive of Krabbe disease

 

Longitudinal evaluation of treatment following hematopoietic stem cell transplantation and gene therapy.

Genetics Test Information

This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for Krabbe disease.

 

Enzyme testing for galactocerebrosidase is included in the diagnostic workup for infants following a positive newborn screen result for Krabbe disease.

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Reporting Name

Galactocerebrosidase, BS

Specimen Type

Whole blood

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 56 days FILTER PAPER
  Frozen  56 days FILTER PAPER
  Ambient  7 days FILTER PAPER

Reference Values

Galactocerebrosidase

≥0.4 nmol/mL/hr

Day(s) Performed

Monday through Sunday

Report Available

2 to 8 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

83789

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GALCB Galactocerebrosidase, BS 62310-8

 

Result ID Test Result Name Result LOINC Value
614799 Interpretation 59462-2
614798 Galactocerebrosidase 62310-8
614800 Reviewed By 18771-6

NY State Approved

No