View Test

Laboratory:

Clinical Biochemistry (METABOLIC)

Test Name:

STEROLS Profile - P

Test Code: STRP

Clinical Information:

Description: Sterol profile in plasma analyzed by GC-MS
Test Indications: This is a screening test for disorder of cholesterol biosynthesis including desmosterolosis, lathosterolosis, cerebrotendinous xanthomatosis, sitosterolemia, sterol C4 methyl oxidase deficiency, Smith-Lemli-Opitz syndrome and EBP gene disorders (X-linked dominant chondrodysplasia punctate type 2 and Male EBP disorder with neurologic defects (MEND) syndrome).

Collection Devices:

Preferred Device:	1 - Li Heparin Plasma Separator Tube(s) - Full Tube Collection Li Heparin Plasma Separator Tube(s) - Full Tube Collection Manufacturer: BD (Becton Dickinson) Catalogue #: 367962
Alternate 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

Specimen Required:

Plasma: 0.5 mL

Pediatric Plasma: 0.1 mL

Special Processing:
- Centrifuge specimen and aliquot plasma into plastic vial
- Store and ship plasma frozen
Specimen Stability:
Ambient: 14 days
Refrigerated: 28 days
Frozen: 92 days (preferred)

Referral:

Shipping & Storage: Store & ship frozen to the Metabolic Lab (HSC).
Referred Out Location: Mayo Clinic Laboratories (TEST ID: STER)

Requisition:

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

Reference Values:

Method of Analysis: Gas chromatography mass spectrometry (GC-MS)

Availability:

Within 2 Weeks