Smith-Lemli-Opitz Screen, Plasma Build info

Synonyms

  • SMITH-LEMLI-OPITZ SCREEN, PLASMA
  • SLO
  • LAB11142

Short Name

SMITH-LEMLI-OPITZ SCREEN, PLASMA

Procedure Master Number

LAB11142

Procedure ID

114672

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 Type

Blood

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

Results
Component Name Base Name Common Name External Name
7-DEHYDROCHOLESTEROL 7DEHYDROCHOL 7 DEHYDROCHOLESTEROL 7-Dehydrocholesterol
8-DEHYDROCHOLESTEROL 8DEHYDROCHOL 8 DEHYDROCHOLESTEROL 8-Dehydrocholesterol
INTERPRETATION INTERP INTERPRETATION
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