OXYBS - Overview: Oxysterols, Blood Spots

Test Catalog

Test Name

Test ID: OXYBS    
Oxysterols, Blood Spots

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

Investigation of possible diagnoses of Niemann-Pick disease type C (NPC) and types A or B (NPA or NPB) in blood spot specimens

 

Monitoring of individuals with NPC disease

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

This test is used to diagnose and monitor patients with Niemann-Pick types A, B, and C disease.

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

See Newborn Screen Follow-up for Niemann Pick Type A and B in Special Instructions.

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

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

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

Conditional

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

Oxysterols, BS

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

Niemann-Pick type A
Niemann-Pick type B
Niemann-Pick type C
Acid Sphingomyelinase Deficiency
ASM Deficiency