Test ID: SPHT
Sphingomyelinase, Fibroblasts
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
8481
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 Niemann-Pick disease types A and B
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Diagnostic test for Niemann-Pick types A and B. Not recommended for carrier detection.
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | Yes |
| CRYOB | Cryopreserve for Biochem Studies | No | Yes |
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
SPHT/8481: Colorimetric Enzyme Assay
CRYOB/88832: Fibroblast Subculture Followed by Cryopreservation and Storage
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Sphingomyelinase, Fibroblasts
Aliases Lists additional common names for a test, as an aid in searching
Niemann Pick A
Niemann Pick B
Niemann Pick Disease (NPD)
Niemann Pick Disease Type A
Niemann Pick Disease Type B
Niemann Pick IA
Niemann Pick Type IA
Niemann-Pick A
Niemann-Pick B
Niemann-Pick Disease
Niemann-Pick Disease Type A
Niemann-Pick Disease Type B
Niemann-Pick IA
Niemann-Pick Type IA
NP A
NP B
NPD (Niemann-Pick Disease)
Sphingomyelin Lipidosis
Sphingomyelinase Deficiency
Niemann Pick B
Niemann Pick Disease (NPD)
Niemann Pick Disease Type A
Niemann Pick Disease Type B
Niemann Pick IA
Niemann Pick Type IA
Niemann-Pick A
Niemann-Pick B
Niemann-Pick Disease
Niemann-Pick Disease Type A
Niemann-Pick Disease Type B
Niemann-Pick IA
Niemann-Pick Type IA
NP A
NP B
NPD (Niemann-Pick Disease)
Sphingomyelin Lipidosis
Sphingomyelinase Deficiency
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