| Laboratory: | Clinical Biochemistry (METABOLIC) | ||||
| Test Name: |
STEROLS Profile - P
Test Code:
STRP
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| 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). |
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| Collection Devices: |
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| 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) |
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| Referral: |
Shipping & Storage: Store & ship frozen to the Metabolic Lab (HSC).
Referred Out Location: Mayo Clinic Laboratories (TEST ID: STER) |
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| Requisition: | |||||
| Reference Values: |
Method of Analysis: Gas chromatography mass spectrometry (GC-MS)
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| Availability: |
Within 2 Weeks
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| See Also: | |||||
| More Information: |