Alpha-Mannosidase, Leukocytes
GTR Test Accession: Help GTR000613064.2
INHERITED DISEASEDYSMORPHOLOGYOPHTHALMOLOGY ... View more
Last updated in GTR: 2024-04-24
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Diagnosis
Deficiency of alpha-mannosidase
alpha-D-mannosidase
Biochemical Genetics - Analyte: Fluorometry
Diagnosis of alpha-mannosidosis. This test is not useful for establishing …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
MANN
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
Test Order Code: Help
CPT codes: Help
**AMA CPT codes notice
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/62511#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 *
Analyte
Fluorometry
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Thomas GH: Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed February 18, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225545029

Target population: Help
Diagnosis of alpha-mannosidosis. This test is not useful for establishing carrier status for alpha-mannosidosis.
View citations (4)
  • Mynarek M, Tolar J, Albert MH, Escolar ML, Boelens JJ, Cowan MJ, Finnegan N, Glomstein A, Jacobsohn DA, Kühl JS, Yabe H, Kurtzberg J, Malm D, Orchard PJ, Klein C, Lücke T, Sykora KW. Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. Bone Marrow Transplant. 2012;47(3):352-9. doi:10.1038/bmt.2011.99. Epub 2011 May 09. PMID: 21552297.
  • Guffon N, Tylki-Szymanska A, Borgwardt L, Lund AM, Gil-Campos M, Parini R, Hennermann JB. Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group. Mol Genet Metab. 2019;126(4):470-474. doi:10.1016/j.ymgme.2019.01.024. Epub 2019 Jan 31. PMID: 30792122.
  • Malm D, Nilssen O: Alpha-mannosidosis. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle. 2001. Updated July 18, 2019. Accessed February 18, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1396/
  • Thomas GH: Disorders of glycoprotein degradation: alpha-mannosidosis, beta-mannosidosis, fucosidosis, and sialidosis. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed February 18, 2022. Available at https://ommbid.mhmedical.com/content.aspx?sectionid=225545029
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. N/A
Research:
Is research allowed on the sample after clinical testing is complete? Help
N/A
Recommended fields not provided:
Technical Information
Test Procedure: Help
The deficiency of alpha-D-mannosidase is demonstrable using the artificial substrate 4-methylumberiferal alpha-D-mannopoyranoside.
View citations (1)
  • 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 102%. Intra assay precision was performed at 2 levels: CV results were 1% and zero activity (N=5 each). Inter assay precision was performed at 2 levels: CV results were 6% and zero activity (N=14 each). The analytical measurement range is 0.0-4.2 … 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
Intra-Laboratory

Description of PT method: Help
Intra-laboratory alternative assessment of performance through quality control or patient blind testing

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.
VUS:
Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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