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Laboratory: Clinical Biochemistry  (METABOLIC)
Test Name:
Test Code: OXYP
Clinical Information:
Test Indications: This test is useful for the investigation of possible diagnoses of Niemann-Pick disease types A, B or C.
This test is also used for monitoring patients with Niemann-Pick type C.
Note: Nonspecific neonatal cholestasis may result in elevations of cholestane-3-beta, 5-alpha, 6-beta-triol (COT) and lyso-sphingomyelin 509 (LSM 509).
Method: Liquid Chromatography Mass Spectrometry (LC-MS/MS) by Mayo Laboratories.
For questions/information: Call metabolic lab at 204-787-4530 and ask for the biochemical geneticist.
Collection Devices:
Specimen Required:

Plasma: 0.3 mL
Pediatric Plasma: 0.25 mL

Freeze sample immediately and send frozen to Metabolic Lab (HSC).
Reference Values:
Within 2 Weeks
See Also:
More Information:
If you have any questions, please communicate with the Metabolic Lab (HSC): 204-787-4530
Send plasma frozen to Mayo Laboratories.
Stability plasma frozen: 65 days
CPT Code: 82542