Lysosomal Acid Lipase, BS
GTR Test Accession: Help GTR000603790.1
INHERITED DISEASEMETABOLIC DISEASESYNDROMIC DISEASE ... View more
Registered in GTR: 2023-01-09
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Diagnosis
Lysosomal acid lipase deficiency
lysosomal acid lipase
Biochemical Genetics - Enzyme assay: Fluorometry
Evaluation of patients with a clinical presentation suggestive of lysosomal …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
LALBS
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/62955#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Enzyme assay
Fluorometry
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Evaluation of patients with a clinical presentation suggestive of lysosomal acid lipase deficiency. This test is not useful to determine carrier status for cholesteryl ester storage disease or Wolman disease.
View citations (2)
  • Bernstein DL, Hülkova 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):1230-43. doi:10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26. PMID: 23485521.
  • Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Pericleous M, et al. Lancet Gastroenterol Hepatol. 2017;2(9):670-679. doi:10.1016/S2468-1253(17)30052-3. PMID: 28786388.
Recommended fields not provided:
Technical Information
Test Procedure: Help
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 … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy was assessed by analysis of normal and abnormal specimens and was acceptable. Intra assay precision was performed at 3 levels: CV results ranged from 14%-28% (N=20 each). Inter assay precision was performed at 3 levels: CV results ranged from 22%-27% (N=30 each). The analytical measurement range is 0.0 – … View more
Assay limitations: Help
No significant cautionary statements
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

Description of PT method: Help
Inter-laboratory comparison with outside laboratory(s)

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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