GTR Test Accession:
Help
GTR000603790.1
Registered in GTR:
2023-01-09
View version history
GTR000603790.1,
registered in GTR:
2023-01-09
Last annual review date for the lab: 2024-05-28
LinkOut
At a Glance
Test purpose:
Help
Diagnosis
Conditions (1):
Help
Lysosomal acid lipase deficiency
Analytes (1):
Help
lysosomal acid lipase
Methods (1):
Help
Biochemical Genetics - Enzyme assay: Fluorometry
Target population: Help
Evaluation of patients with a clinical presentation suggestive of lysosomal …
Clinical validity:
Help
Not provided
Clinical utility:
Help
Establish or confirm diagnosis
Ordering Information
Offered by:
Help
Test short name:
Help
LALBS
Specimen Source:
Help
- Dried blood spot (DBS) card
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- Licensed Dentist
- Licensed Physician
- Nurse Practitioner
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Test Order Code:
Help
LALBS
View other test codes
View other test codes
LOINC codes:
Help
Lab contact:
Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
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
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:
Test strategy
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
Clinical utility:
Help
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:
Clinical validity,
What is the protocol for interpreting a variation as a VUS?,
Are family members with defined clinical status recruited to assess significance of VUS without charge?,
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
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
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.
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:
Test Confirmation,
Citations to support assay limitations,
Citations to support internal test validation method,
Citations for Analytical validity,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
Help
Category:
FDA exercises enforcement discretion
Additional Information
Suggested reading:
Clinical resources:
Consumer resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.