Test Id : LALBS
Lysosomal Acid Lipase, Blood Spot
Useful For
Suggests clinical disorders or settings where the test may be helpful
Evaluation of patients with a clinical presentation suggestive of lysosomal acid lipase deficiency using blood spot specimens
This test is not useful to determine carrier status for cholesteryl ester storage disease or Wolman disease.
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 lysosomal acid lipase deficiency (LALD).
LALD is expressed phenotypically as infantile-onset Wolman disease or later-onset cholesterol ester storage disease.
Method Name
A short description of the method used to perform the test
Fluorometric Enzyme Assay
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
Cholesterol Ester Storage Disease
CESD
Wolman Disease
LAL deficiency
LIPA deficiency
Lysosomal acid lipase deficiency
Acid lipase deficiency
LAL-D
LALD
Specimen Type
Describes the specimen type validated for testing
Whole blood
Necessary Information
Provide a reason for testing with each specimen.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Collection Container/Tube:
Preferred: Blood spot collection card
Acceptable: PerkinElmer 226 filter paper, Munktell TFN, and Whatman Protein Saver 903 Paper
Specimen Volume: 2 Blood spots
Collection Instructions:
1. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).
2. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
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.
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
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 1 of the following forms 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.
1 Blood spot
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Shows serum rings Multiple layers | 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 | Refrigerated (preferred) | 28 days | FILTER PAPER |
| Ambient | 7 days | FILTER PAPER | |
| Frozen | 90 days | FILTER PAPER |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Evaluation of patients with a clinical presentation suggestive of lysosomal acid lipase deficiency using blood spot specimens
This test is not useful to determine carrier status for cholesteryl ester storage disease or Wolman disease.
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 lysosomal acid lipase deficiency (LALD).
LALD is expressed phenotypically as infantile-onset Wolman disease or later-onset cholesterol ester storage disease.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Deficiency of lysosomal acid lipase (LAL) results in 2 clinically distinct phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). Both phenotypes follow an autosomal recessive inheritance pattern and are caused by variant in the LIPA gene.
WD, the early-onset phenotype of LAL deficiency, is a lipid storage disorder characterized by vomiting, diarrhea, failure to thrive, abdominal distension, hepatosplenomegaly, and liver failure. Enlarged adrenal glands with calcification, a classic finding in WD, can lead to adrenal cortical insufficiency. Unless successfully treated, survival is rare beyond infancy.
CESD, the late-onset phenotype of LAL deficiency, is clinically variable with patients presenting at any age with progressive hepatomegaly and often splenomegaly, serum lipid abnormalities, and elevated liver enzymes. In childhood, patients can also present with failure to thrive and delayed milestones. Common features include premature atherosclerosis leading to coronary artery disease and strokes, liver disease of varying severity, and organomegaly. Lipid deposition in the intestinal tract can lead to diarrhea and weight loss.
CESD is likely underdiagnosed and frequently diagnosed incidentally after liver pathology reveals findings similar to nonalcoholic fatty liver disease or nonalcoholic steatohepatitis. Birefringent cholesteryl ester crystals in hepatocytes or Kupffer cells in fresh-frozen tissues are visualized under polarized light and pathognomonic.
Enzyme replacement therapy (sebelipase alfa) was recently approved for both WD and CESD and is now clinically available.
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 =21.0 nmol/h/mL
Interpretation
Provides information to assist in interpretation of the test results
Enzyme activity below 1.5 nmol/h/mL in properly submitted samples is consistent with lysosomal acid lipase deficiency: Wolman disease or cholesteryl ester storage disease.
Normal results (> or =21.0 nmol/h/mL) are not consistent with lysosomal acid lipase deficiency.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
No significant cautionary statements
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243
2. Reynolds T. Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. J Clin Pathol. 2013;66(11):918-923
3. Pericleous M, Kelly C, Wang T, Livingstone C, Ala A. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017;2(9):670-679. doi:10.1016/S2468-1253(17)30052-3
4. Pastores GM, Hughes DA. Lysosomal acid lipase deficiency: Therapeutic options. Drug Des Devel Ther. 2020;14:591-601
Method Description
Describes how the test is performed and provides a method-specific reference
A 3-mm (one-eighth inch) disk is punched out of the dried blood spot into a microcentrifuge tube and water is added as a preincubation extraction that takes place on an orbital shaker. Extraction liquid is combined with either water (total activity well) or Lalistat (inhibited well) in a black 96-well plate. The plate is incubated. The substrate is then added to the same plate. After the incubation period, calibrators are prepared and analyzed on every plate to calculate enzyme activity results based on fluorescence units in patient wells vs calibrators. The calibration is derived from 4-methylumbelliferone (4-MU) that is serially diluted manually in the plate, with the highest calibrator being equivalent to an enzyme activity of 672.0 nmol/hour/mL blood. The plate is then ready to be read using the spectrofluorometer. Enzyme activity is calculated by subtracting the inhibited activity from total activity.(Hamilton J, Jones I, Srivastava R, Galloway P. A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. Clin Chim Acta. 2012;413(15-16):1207-1210; Cowan T, Pasquali M: Laboratory investigations of inborn errors of metabolism. In: Sarafoglou K, Hoffman GF, Roth KS, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. 2nd ed. McGraw-Hill; 2017:1139-1158)
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.
Friday
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.
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- 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 |
|---|---|---|
| LALBS | Lysosomal Acid Lipase, BS | 73958-1 |
| 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.
|
|---|---|---|
| 62955 | Lysosomal Acid Lipase, BS | 73958-1 |
| 36341 | Reviewed By | 18771-6 |
| 36340 | Interpretation (LALBS) | 59462-2 |