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Prenatal Sickle Cell Anemia Mutation Analysis

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms Sickle cell fetus
Cerner Primary MnemonicSickle Cell Anemia DNA, Fetus
EPIC Display NamePrenatal Sickle Cell Anemia Mutation Analysis
Allscripts (AEHR) Order Name

Not Orderable

Sunrise Clinical Manager (SCM) Order Name

Sickle Cell Anemia DNA, Fetus

EPIC Inpatient Orderable No
EPIC Outpatient Orderable No
Cerner Results Sickle DNA
Clinical Info

Direct detection of hemoglobin A, S, and C. This test is most useful for prenatal diagnosis of an at-risk fetus. This test can also be used for diagnosis of a symptomatic patient or carrier testing for a healthy adult.

Specimen Type

Container

Sterile

Collection Instructions

Container/Tube:  Sterile leak-proof container
Specimen:
20 mL amniotic fluid collected in sterile transport tube, or
 30 mg direct chorionic villi, or
 20 mL amniotic fluid collected in each of two T-25 flasks, or
 20 mL cultured cells collected in each of two T-25 flasks
   Minimum Volume
10 mL amniotic fluid • 15 mg chorionic villi • 10 mL cultured cells
Transport Temperature: Room Temperature
Stability: Room temperature: 48 hours                 Refrigerated: Unacceptable                 Frozen: Unacceptable   
Collection Instructions
Amniotic fluid: Collect 10-20 cc of amniotic fluid in a sterile plastic container.
 
Chorionic Villus Sample (CVS): Collect 15-30 mg of chorionic villi in a sterile container. Add 2-3 mL of sterile saline or tissue culture medium.
 
Cultured Cells: Ship two 100% confluent T-25 flasks filled with growth media. Ship at room temperature. Do not refrigerate or freeze. Call lab for additional requirements for prenatal testing. Indicate source of cells: Amniotic Fluid (AF) or Chorionic Villus Sample (CVS).
 Please send  Maternal Cell Contamination Study, with this test. A separate tube of maternal blood (EDTA) must be drawn in order to rule out maternal contamination of the fetal sample       

Transport Instructions

Room Temperature

Specimen Stability

Room temperature: 48 hours                 Refrigerated: Unacceptable                 Frozen: Unacceptable   
Collection Instructions
Amniotic fluid: Collect 10-20 cc of amniotic fluid in a sterile plastic container.
 
Chorionic Villus Sam

Methodology

Polymerase Chain Reaction (PCR)
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Days Performed

Performing Laboratory

Quest Diagnostics' Nichols Institute, Inc. - Chantilly

CPT

81361
88235
 
LOINC Code: 21689-5

PDM

1759576

Desired Epic Build Prenatal Sickle Cell Anemia Mutation Analysis

Cerner Primary Mnemonic: Sickle Cell Anemia DNA, Fetus
PDM 1759576
Informatics - WorkgroupMolecular-send outs
Synonyms *Sickle cell fetus
Display Name *Prenatal Sickle Cell Anemia Mutation Analysis
Order Entry Specimen Sources *
Order Entry Specimen Types
Amniotic Fluid
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText)Direct detection of hemoglobin A, S, and C. This test is most useful for prenatal diagnosis of an at-risk fetus. This test can also be used for diagnosis of a symptomatic patient or carrier testing for a healthy adult.
IP Orderable No
OP Orderable No
AOEs *

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

Result DescResult displayResult PDM
Sickle DNA Sickle DNA 1759576A

Current Actual EPIC Build as of 10/28/2024

Procedure Id 115225
Pdm 1759576
Order Display Name Prenatal Sickle Cell Anemia Mutation Analysis
Procedure Name SICKLE CELL ANEMIA DNA, FETUS
Procedure Master Number LAB11444
Short Procedure Name SICKLE CELL ANEMIA DNA, FETUS
Category Code 7.0
Category Code Record Name LAB BODY FLUIDS AND STOOLS ORDERABLES
Synonyms SICKLE CELL FETUS
Clinically Active No
Orderable Yes
Performable Yes
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115225
Ordering Instructions
Default Specimen Type Amniotic Fluid
Specimen Type Pick List Amniotic Fluid
Specimen Type List
Op Specimen Type List
Specimen Source Pick List Amniotic Sac
Specimen Source Default - Male Amniotic Sac
Specimen Source Default - Female Amniotic Sac
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 Per Rectum
Edp Op Specimen Source Per Rectum
Edp Ip Specimen Type Stool Cerebrospinal Fluid
Edp Op Specimen Type Cerebrospinal Fluid Stool
Derived Edp Ip Buttons S
Derived Edp Ip Buttons T
Derived Edp Op Buttons S
Derived Edp Op Buttons T
Ip Orderable 0
Op Orderable 0
EPIC OP AOEs

EPIC IP AOEs

EPIC Components (results)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047804734 SICKLE CELL ANEMIA DNA, FETUS SICKLEANE SICKLE CELL ANEMIA DNA, FETUS 1759576A