Galactocerebrosidase Enzyme Analysis

Omics test Model
Test Code B0012
Test Summary

This test detects galactocerebrosidase activity.
Turn Around Time 3 days
Acceptable Sample Types Dried Blood Spots , Whole Blood (EDTA)
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test Inquiry
Test Code: B0012
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General Biochemical and Molecular Requisition Form

Test Description

This test detects galactocerebrosidase enzyme activity that has been associated with Krabbe disease.

Indications for Testing

This test may be appropriate for individuals with a clinical suspicion of Krabbe disease and/or individuals with a family history of Krabbe disease.

Condition Description

Krabbe disease is associated with the demyelination of the nervous system and abnormal globoid cells in the brain. Age of onset is typically in infancy, although other forms occur later in life. The symptoms usually include muscle weakness, irritability, feeding difficulties, fever without infection, developmental delay, stiff posture, vision loss, and seizures. The infantile form of the disease causes death by age 2, and life expectancy is decreased in the later onset forms. The incidence of Krabbe disease is estimated to be ~1 in 100,000.

Test Methods and Limitations

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Detailed Sample Requirements

Whole Blood (EDTA)
Test Details Page
Collection Container(s) EDTA (purple top)
Collection Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.
Sample Condition Store at ambient temperature. Do not refrigerate or freeze.
Shipping Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
Special Sample Instructions Clotted or hemolyzed samples are not accepted.
Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card
Collection

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample Condition Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping Follow kit instructions. Double bag and ship overnight at ambient temperature.

Resources

General Biochemical and Molecular Requisition Form