Inpatient and Outpatient Orderable

Smith-Lemli-Opitz Screen, Plasma

Synonyms

LAB11142
SLO
SMITH-LEMLI-OPITZ SCREEN, PLASMA

Cerner Name

Clinical Info

Diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
Smith-Lemli-Opitz syndrome (SLO) is a multiple congenital anomaly disorder caused by defective cholesterol biosynthesis due to deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase.

Clinical variability even within families has been noted and severity of SLO ranges from severe to mild.

Specimen Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

Specimen Volume

Container

Lavender Top or Dark Green Top Tube

Collection Instructions

Container/Tube: Lavender Top Tube , Dark Green (Na Hep) or Mint Green (Li Hep)
Specimen: 0.5 mL Plasma (0.1 mL min)
Transport Temperature: Frozen

Transport Instructions

Specimen Stability

14 Days Room Temperature
28 Days Refrigerated
92 Days Frozen (Preferred)

Methodology

Gas Chromatography-Mass Spectrometry (GC-MS)

Days Performed

TAT: 4- 8 Days

Performing Laboratory

Mayo Medical Laboratories

CPT

82542
LOIN Code; 73852-6

PDM

225371

Only Orderable at Locations:

Orderable Everywhere

Results

Component Name	Base Name	Common Name	External Name
INTERPRETATION	SLOINT	INTERPRETATION	Interpretation
7-DEHYDROCHOLESTEROL	7DEHYDROCHOL	7 DEHYDROCHOLESTEROL	7-Dehydrocholesterol
8-DEHYDROCHOLESTEROL	8DEHYDROCHOL	8 DEHYDROCHOLESTEROL	8-Dehydrocholesterol
REVIEWED BY	SLOREVBY	REVIEWEDBY, BY	Reviewed by

Result Interpretation

7-DEHYDROCHOLESTEROL

< or =2.0 mg/L

8-DEHYDROCHOLESTEROL

< or =0.3 mg/L

Forms

LAB11142

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