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Test Id : LGBBS
Globotriaosylsphingosine, Blood Spot
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Diagnosing and monitoring of patients with Fabry disease using dried blood spots when a serum specimen is not available
This test is not intended for newborn screening followup.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Method Name
A short description of the method used to perform the test
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.
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Yes
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Lists a shorter or abbreviated version of the Published Name for a test
Globotriaosylsphingosine, BS
Aliases
Lists additional common names for a test, as an aid in searching
Lists additional common names for a test, as an aid in searching
LGBBS
Specimen Type
Describes the specimen type validated for testing
Describes the specimen type validated for testing
Whole blood
Ordering Guidance
Serum is the recommended specimen type for monitoring patients with Fabry Disease. For more information see LGB3S / Globotriaosylsphingosine, Serum.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Supplies:
-Card-Blood Spot Collection (Filter Paper) (T493)
-Card-Postmortem Screening (Filter Paper) (T525)
Container/Tube:
Preferred: Blood Spot Collection (Filter Paper)
Acceptable: PerkinElmer (formerly Ahlstrom) 226 filter paper, Munktell filter paper, Postmortem Screening Card or collected with EDTA, sodium heparin, lithium heparin, or ACD B-containing devices
Specimen Volume: 2 Blood spots
Collection Instructions:
1. Let blood dry completely on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
2. At least 1 spot should be complete, (ie, unpunched).
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions.
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Forms
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
1 Blood spot
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Identifies specimen types and conditions that may cause the specimen to be rejected
| Shows serum rings Insufficient specimen | 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
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 | Refrigerated (preferred) | 10 days | FILTER PAPER |
| Frozen | 59 days | FILTER PAPER | |
| Ambient | 10 days | FILTER PAPER |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Diagnosing and monitoring of patients with Fabry disease using dried blood spots when a serum specimen is not available
This test is not intended for newborn screening followup.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (alpha-GAL A). Reduced enzyme activity results in accumulation of glycosphingolipids in the lysosomes throughout the body, in particular in the kidney, heart, and brain. Severity and onset of symptoms are dependent on the residual enzyme activity. Symptoms may include acroparesthesias (pain crises), multiple angiokeratomas, reduced or absent sweating, corneal opacity, kidney insufficiency leading to end-stage kidney disease, and cardiac and cerebrovascular disease. There are renal and cardiac variant forms of Fabry disease that may be underdiagnosed. Female patients who are heterozygous for Fabry disease can have clinical presentations ranging from asymptomatic to severely affected, and they may have alpha-GAL A activity in the normal range. The estimated incidence varies from 1 in 3000 infants detected via newborn screening to 1 in 10,000 male patients diagnosed after onset of symptoms.
Unless irreversible damage has already occurred, treatment with enzyme replacement therapy has led to significant clinical improvement in affected individuals. For this reason, early diagnosis and treatment are desirable, and early detection of Fabry disease through newborn screening has been implemented in a few US states.
Absent or reduced alpha-GAL A in leukocytes (AGAW / Alpha-Galactosidase, Leukocytes), serum (AGAS / Alpha-Galactosidase, Serum), or blood spots (AGABS / Alpha-Galactosidase, Blood Spot) can reliably diagnose classic or variant Fabry disease in male patients. Molecular genetic testing is the recommended diagnostic test for female patients as alpha-GAL A activity may be in the normal range in an affected female patient. Molecular sequence analysis of the GLA gene (FABRZ / Fabry Disease, Full Gene Analysis, Varies) allows for detection of the disease-causing variant in both male and female patients.
The glycosphingolipid, globotriaosylsphingosine (LGb3), may be elevated in symptomatic patients and supports a diagnosis of Fabry disease. It may also be helpful as a tool for monitoring disease progression as well as determining treatment response in known patients. In addition, measurement of LGb3, may provide additional diagnostic information in the evaluation of uncertain cases, such as in asymptomatic heterozygous female patients, individuals with novel GLA variants of unclear clinical significance, as well as asymptomatic patients identified by family screening.
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.
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.
Cutoff: < or =0.034 nmol/mL
Interpretation
Provides information to assist in interpretation of the test results
Provides information to assist in interpretation of the test results
An elevation of globotriaosylsphingosine is suggestive of Fabry disease.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Some patients with Fabry disease may have normal concentrations of globotriaosylsphingosine.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
Recommendations for in-depth reading of a clinical nature
1. Alharbi FJ, Baig S, Auray-Blais C, Boutin M, et al: Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease. J Inherit Metab Dis. 2018 Mar;41(2):239-247. doi: 10.1007/s10545-017-0127-2.
2. Vardarli I, Rischpler C, Herrmann K, Weidemann F: Diagnosis and screening of patients with Fabry disease. Ther Clin Risk Manag. 2020 Jun 22;16:551-558. doi: 10.2147/TCRM.S247814.
3. Mehta A, Hughes DA: Fabry disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2002. Updated January 5, 2017. Accessed November 10, 2020. Available at www.ncbi.nlm.nih.gov/books/NBK1292/
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Method Description
Describes how the test is performed and provides a method-specific reference
Describes how the test is performed and provides a method-specific reference
A 3-mm dried blood spot is extracted with internal standard. The extract is subjected to liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis. The MS/MS is operated in the multiple reaction monitoring positive mode to follow the precursor to product species transitions for each analyte and internal standard. The ratio of the extracted peak areas to internal standard is determined by LC-MS/MS is used to calculate the concentration of in the sample.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Indicates whether the report includes an additional document with charts, images or other enriched information
No
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.
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.
Tuesday
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.
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.
2 to 9 days
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Normal result: 2 months; Abnormal result: Indefinitely
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Indicates the location of the laboratory that performs the test
Rochester
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.
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 Regional Manager. 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.
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. This test 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.
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.
82542
Test Setup Resources
Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.
Normal and Abnormal sample reports are provided as references for report appearance.
SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.