Test Id : GALCW
Galactocerebrosidase, Leukocytes
Useful For
Suggests clinical disorders or settings where the test may be helpful
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.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
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.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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
Method Name
A short description of the method used to perform the test
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Cerebroside B-Galactosidase, WBC
Cerebroside Beta-Galactosidase(WBC)
Galactocerebrosidase
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency
Galactosylceramide
GALC Deficiency
Globoid Cell Leukodystrophy
Krabbe Disease
Krabbe's Disease
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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
Specimen Type
Describes the specimen type validated for testing
Whole Blood ACD
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
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
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.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602)
3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | Reject |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood ACD | Refrigerated (preferred) | 6 days | |
| Ambient | 6 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
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.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
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.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
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
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive disorder caused by a deficiency of the enzyme, galactocerebrosidase (GALC). GALC facilitates the lysosomal degradation of psychosine (galactosylsphingosine) and 3 other substrates (galactosylceramide, lactosylceramide, and lactosylsphingosine causing severe demyelination throughout the brain. Krabbe disease is caused by variants in the GALC gene, and it has an estimated frequency of 1 in 100,000 births. Although rare, a few infants with an infantile Krabbe disease-like phenotype due to deficiency of saposin A have been found. Saposin-A is a sphingolipid activator protein that assists galactocerebrosidase in its action on galactosylceramide.
Severely affected infants typically present between 3 to 6 months of age with increasing irritability and sensitivity to stimuli. Rapid neurodegeneration including white matter disease follows, with death usually occurring by age 2 years. Some individuals have later onset forms of the disease that are characterized by ataxia, vision loss, weakness, and psychomotor regression presenting anywhere from age 6 months to the seventh decade of life. The clinical course of Krabbe disease can be variable, even within the same family.
Newborn screening for Krabbe disease has been implemented in some states. The early (presymptomatic) identification and subsequent testing of infants at risk for Krabbe disease may be helpful in reducing the morbidity and mortality associated with this disease. While treatment is mostly supportive, hematopoietic stem cell transplantation has shown some success if performed early, prior to onset of neurologic damage.
Reduced or absent galactocerebrosidase in leukocytes can indicate a diagnosis of Krabbe disease; however, a number of alterations in the GALC gene have been identified that result in reduced galactocerebrosidase activity in vitro but do not cause disease. The biomarker, psychosine (PSY / Psychosine, Blood Spot or PSYR / Psychosine, Whole Blood or PSYCF / Psychosine, Spinal Fluid), has been shown to be elevated in patients with active Krabbe disease. Molecular sequencing of the GALC gene (KRABZ / Krabbe Disease, Full Gene Analysis and Large [30 kb] Deletion, Varies) is necessary for differentiating alterations from disease-causing variants in affected patients and for carrier detection in family members.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
> or =0.300 nmol/hour/mg protein
An interpretative report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro, confirmatory studies (enzyme assay, molecular analysis), name and phone number of key contacts who may provide these studies, and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Pseudodeficiency of galactocerebrosidase causes reduced enzymatic activity but does not cause disease.
A Krabbe disease phenotype can also be caused in very rare cases by the absence of a physiologically active sphingolipid activator protein, saposin A.
Enzyme levels may be normal in individuals who have undergone hematopoietic stem cell transplant.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Newborn Screening ACT Sheet [Decreased galactocerebrosidase, elevated psychosine] Krabbe Disease (infantile form). American College of Medical Genetics and Genomics; 2021. Updated May 2022. Accessed June 10, 2024. Available at www.acmg.net/PDFLibrary/Krabbe-Infantile.pdf
2. Newborn Screening ACT Sheet [Decreased galactocerebrosidase, mildly elevated psychosine] Krabbe Disease (late-onset form). American College of Medical Genetics and Genomics; 2021. Updated May 2022. Accessed June 10, 2024. Available www.acmg.net/PDFLibrary/Krabbe-Later-Onset.pdf
3. Elliott S, Buroker N, Cournoyer JJ, et al: Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. Mol Genet Metab. 2016 Aug;118(4):304-309
4. Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S: Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015 Apr;39(3):206-216
5. Orsini JJ, Escolar ML, Wasserstein MP, et al: Krabbe disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated October 11, 2018. Accessed April 5, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1238/
6. Liao HC, Spacil Z, Ghomashchi F, et al: Lymphocyte galactocerebrosidase activity by LC-MS/MS for post-newborn screening evaluation of Krabbe disease. Clin Chem. 2017 Aug;63(8):1363-1369
7. Kwon JM, Matern DM, Kurtzberg J, et al: Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018;13:30 doi: 10.1186/s13023-018-0766-x
Method Description
Describes how the test is performed and provides a method-specific reference
The specimens are incubated with a mix of substrate and internal standard for galactocerebrosidase and alpha galactosidase (GLA). The reaction is then stopped using acetonitrile, centrifuged, and a portion of the supernatant is prepared for analysis by liquid chromatography-tandem mass spectrometry. GLA is included to verify sample integrity.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Preanalytical processing: Monday through Saturday
Testing performed: Monday, Wednesday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
82657
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| GALCW | Galactocerebrosidase, WBC | 24084-6 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 606270 | Galactocerebrosidase, WBC | 24084-6 |
| 606271 | Interpretation | 59462-2 |
| 606272 | Reviewed By | 18771-6 |