Test ID: PMMIL
Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Leukocytes
Secondary ID
A test code used for billing and in test definitions created prior to November 2011
89656
NY State Approved
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Conditional
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/89891 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
Colorimetric
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
CDG-Ia
CDG-Ib
Congenital Disorders of Glycosylation (CDG)Type I
Congenital Disorders of Glycosylation (CDG)Type II
Phosphomannose Isomerase (PMI)
PMM (Phosphomannomutase)
CDG (Congenital Disorders of Glycosylation)Type II
CDG-Ia
CDG-Ib
Congenital Disorders of Glycosylation (CDG)Type I
Congenital Disorders of Glycosylation (CDG)Type II
Phosphomannose Isomerase (PMI)
PMM (Phosphomannomutase)


