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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:
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)

Shipping & Storage: Store & ship frozen to the Metabolic Lab (HSC).
Referred Out Location: Mayo Clinic Laboratories (TEST ID: STER)
Reference Values:
Method of Analysis: Gas chromatography mass spectrometry (GC-MS)
Within 2 Weeks
See Also:
More Information: