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Laboratory:

Clinical Biochemistry (METABOLIC)

Test Name:

OXYSTEROLS - (P)

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:

Preferred Device:	1 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	1 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

Specimen Required:

Plasma: 0.3 mL

Pediatric Plasma: 0.25 mL

Referral:

Freeze sample immediately and send frozen to Metabolic Lab (HSC).

Requisition:

_SH Biochemical Genetics Laboratory Requisition (R250-10-69)

Reference Values:

Availability:

Within 2 Weeks