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Smith-Lemli-Opitz Screen, Plasma

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms SLO
Cerner Primary MnemonicSmith-Lemli-Opitz Screen, Plasma
EPIC Display NameSmith-Lemli-Opitz Screen, Plasma
Allscripts (AEHR) Order Name

Smith-Lemli-Opitz Screen, Plasma

Sunrise Clinical Manager (SCM) Order Name

Smith-Lemli-Opitz Screen, Plasma

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results 8DHC
SLO Interp
7DHC
Rev By
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

Desired Epic Build Smith-Lemli-Opitz Screen, Plasma

Cerner Primary Mnemonic: Smith-Lemli-Opitz Screen, Plasma
PDM 225371
Informatics - WorkgroupMolecular-send outs
Synonyms *SLO
Display Name *Smith-Lemli-Opitz Screen, Plasma
Order Entry Specimen Sources *
Order Entry Specimen Types
Blood
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText)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.
IP Orderable Yes
OP Orderable Yes
AOEs *

AP AOEs
Special History No
Build Comments
Filter *
Procedure Category Change
Cerner Results

Result DescResult displayResult PDM
8DHC 8DHC 225371C
SLO Interp SLO Interp 225371A
7DHC 7DHC 225371B
Rev By Rev By 225371D

Current Actual EPIC Build as of 10/28/2024

Procedure Id 114672
Pdm 225371
Order Display Name Smith-Lemli-Opitz Screen, Plasma
Procedure Name SMITH-LEMLI-OPITZ SCREEN, PLASMA
Procedure Master Number LAB11142
Short Procedure Name SMITH-LEMLI-OPITZ SCREEN, PLASMA
Category Code 1.0
Category Code Record Name LAB BLOOD ORDERABLES
Synonyms SLO
Clinically Active Yes
Orderable Yes
Performable Yes
Filter Genomics
Reference Link Url https://labs.northwell.edu/epic/test/114672
Ordering Instructions
Default Specimen Type Blood
Specimen Type Pick List Blood
Specimen Type List
Op Specimen Type List
Specimen Source Pick List Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous
Specimen Source Default - Male Blood, Venous
Specimen Source Default - Female Blood, Venous
Specimen Source List
Op Specimen Source List
Ip Lab Test Components For Report
Op Lab Test Components For Report
Order Questions []
Order Questions Record Name
Inpatient Order Questions []
Inpatient Order Questions Record Name
Order Specific Question Override
Inpatient Question Override
Location Restrict List Ip
Location Restrict List Ip Record Name
Location Restrict List Include Ip
Location Restrict List Op
Location Restrict List Op Record Name
Location Restrict List Includes Op
Edp Amb Order Specific Questions Record Name
Edp Ip Order Specific Questions Record Name
Edp Ip Specimen Source Blood, Venous Blood, Central Line Blood, Arterial Blood, Capillary
Edp Op Specimen Source
Edp Ip Specimen Type Blood
Edp Op Specimen Type
Derived Edp Ip Buttons S Blood, Central Line Blood, Venous Blood, Capillary Blood, Arterial
Derived Edp Ip Buttons T Blood
Derived Edp Op Buttons S
Derived Edp Op Buttons T
Ip Orderable 1
Op Orderable 1
EPIC OP AOEs

EPIC IP AOEs

EPIC Components (results)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047800812 8-DEHYDROCHOLESTEROL 8DEHYDROCHOL 8 DEHYDROCHOLESTEROL 225371C
3047805535 INTERPRETATION INTERP INTERPRETATION 225371A
3047800811 7-DEHYDROCHOLESTEROL 7DEHYDROCHOL 7 DEHYDROCHOLESTEROL 225371B
3047805639 REVIEWED BY REVIEWEDBY REVIEWEDBY, BY 225371D