Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: PMMIL
Phosphomannomutase and Phosphomannose Isomerase, Leukocytes
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: CDG-Ia or PMM2-CDG) and Ib (phosphomannose isomerase deficiency: CDG-Ib or MPI-CDG) as measured in leukocytes
Follow-up testing for patients with an abnormal transferrin isoform profile
This test is not useful for carrier testing.
Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request
Congenital disorders of glycosylation (CDG) are a large and growing group of inborn errors of glycan metabolism that are clinically diverse, but most often present during infancy or childhood.
A diagnostic workup for a CDG should begin with transferrin analysis by liquid chromatography-mass spectrometry (CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum).
Follow-up testing of an abnormal transferrin isoform profile may include enzymatic analysis for the diagnosis of phosphomannomutase-2 deficiency (PMM2-CDG or CDG-Ia) and phosphomannose isomerase deficiency (MPI-CDG or CDG-Ib).
Special Instructions 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
Colorimetric
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
CDG-Ia
CDG-Ib
Congenital Disorders of Glycosylation (CDG)Type I
Phosphomannose Isomerase (PMI)
PMM (Phosphomannomutase)