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Test ID: PMMIF    
Phosphomannomutase (PMM) and Phosphomannose Isomerase (PMI), Fibroblasts

Secondary ID A test code used for billing and in test definitions created prior to November 2011

89657

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 fibroblasts

 

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)

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.

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

PMMIF: Colorimetric Enzyme Assay
FIBR: Cultivated from Biopsy as Monolayer
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

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

PMM-PMI, Fibroblasts

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)
PMI (Phosphomannose Isomerase)
PMM (Phosphomannomutase)