PMMIL - Overview: Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes

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Test ID: PMMIL    
Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of 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


A follow-up test for patients with an abnormal transferrin isoform profile as determined by isoelectric focusing or liquid chromatography-mass spectrometry (eg, CDG / Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum)

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test


NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

PMM-PMI, Leukocytes

Aliases Lists additional common names for a test, as an aid in searching

CDG (Congenital Disorders of Glycosylation)Type I
CDG (Congenital Disorders of Glycosylation)Type II
Congenital Disorders of Glycosylation (CDG)Type I
Congenital Disorders of Glycosylation (CDG)Type II
Phosphomannose Isomerase (PMI)
PMM (Phosphomannomutase)