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Test ID: IDST    
Alpha-L-Iduronidase, Fibroblasts

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

Yes

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

Diagnosis of mucopolysaccharidosis I (MPS I), Hurler syndrome (MPS IH), Scheie syndrome (MPS IS), and Hurler-Scheie syndrome (MPS IH/S)

 

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Diagnostic testing. Not recommended for carrier detection.

Fibroblasts are the preferred specimen since testing for other mucopolysaccharide storage diseases may be necessary.

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

IDST: Fluorometric Enzyme Assay

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

Alpha-L-Iduronidase, Fibroblasts

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

Attenuated MPS I
Hurler Disease
Hurler Syndrome
Hurler/Scheie Syndrome
IDUA Deficiency
Iduronidase, Alpha-L
MPS 1a
MPS 1b
MPS 1c
MPS IA
MPS IB
MPS IC
MPS IH
MPS IH/S
MPS IS
Mucopolysaccharidosis I
Scheie Disease
Scheie Syndrome