EPIC Test Compendium Alpha
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Whole Exome Sequencing-Proband

Test Catalog Information

Test Catalog Synonyms
EPIC Synonyms XomeDx proband
WES proband
Cerner Primary MnemoniczzHG19-Exome-V3 Proband
EPIC Display NameWhole Exome Sequencing-Proband
Allscripts (AEHR) Order Name

HG19-Exome-V3 Proband

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results HG19-Exome-V3 Proband
Clinical Info

Determination of a clinical diagnosis Identification of gene implicated in genetic disease Recurrence risk assessment Notes:
XomeDx, or exome sequencing (ES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual and is best suited for patients who have a genetic condition that routine genetic testing has not been able to identify. The XomeDx test targets exons, which are the protein-coding regions of the human genome. Exons are captured and sequenced using massively parallel sequencing. XomeDx and XomeDxPlus test reports will include analysis of ACMG secondary findings in the proband unless the proband is opted-out. The presence of any secondary finding(s) reported for the proband will be provided for all relatives tested by XomeDx or XomeDxPlus. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s XomeDx test.

Specimen Type

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender top tube
Specimen: 2 - 5 mL whole blood
Transport Temperature: Room Temperature

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-gen Sequencing

Days Performed

TAT; 14- 21 days **Due to extremely high demand for GeneDx’s exome and genome testing, current TAT may extend up to a few weeks longer for some cases. This does not affect TAT for XomeDxXpress, Priority or Prenatal. Please reach out to your local GeneDx Testing Specialist if you need further assistance. **

Performing Laboratory

GeneDx

CPT

81415

PDM

1659932

Desired Epic Build Whole Exome Sequencing-Proband

Cerner Primary Mnemonic: zzHG19-Exome-V3 Proband
PDM 1659932
Informatics - WorkgroupMolecular-send outs
Synonyms *XomeDx proband
WES proband
Display Name *Whole Exome Sequencing-Proband
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) Determination of a clinical diagnosis Identification of gene implicated in genetic disease Recurrence risk assessment Notes:
XomeDx, or exome sequencing (ES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual and is best suited for patients who have a genetic condition that routine genetic testing has not been able to identify. The XomeDx test targets exons, which are the protein-coding regions of the human genome. Exons are captured and sequenced using massively parallel sequencing. XomeDx and XomeDxPlus test reports will include analysis of ACMG secondary findings in the proband unless the proband is opted-out. The presence of any secondary finding(s) reported for the proband will be provided for all relatives tested by XomeDx or XomeDxPlus. GeneDx does not conduct an independent evaluation of secondary findings in relatives as part of the proband’s XomeDx test.
IP Orderable Yes
OP Orderable Yes
AOEs *

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

Result DescResult displayResult PDM
HG19-EXV3 Pro HG19-Exome-V3 Proband 1659932A

Actual Epic build

Procedure Id 115533
Pdm 1659932
Order Display Name Whole Exome Sequencing-Proband
Procedure Name HG19-EXOME-V3 PROBAND
Procedure Master Number LAB11609
Short Procedure Name HG19-EXOME-V3 PROBAND
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms XOMEDX PROBAND WES PROBAND
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115533
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
Specimen Source Default - Female
Specimen Source List
Op Specimen Source List
Ip Lab Test Components For Report
Op Lab Test Components For Report
Order Questions ["3048500000"]
Order Questions Record Name
Inpatient Order Questions ["3048500000"]
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 NH IP PATIENT COMPLETED CONSENT
Edp Ip Order Specific Questions Record Name NH IP PATIENT COMPLETED CONSENT
Edp Ip Specimen Source
Edp Op Specimen Source
Edp Ip Specimen Type
Edp Op Specimen Type
Derived Edp Ip Buttons S
Derived Edp Ip Buttons T
Derived Edp Op Buttons S
Derived Edp Op Buttons T
Ip Orderable 1
Op Orderable 1
EPIC OP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
EPIC IP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
EPIC Components (results)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047802804.0 HG19-EXOME-V3 PROBAND HG19V3PROB HG19-EXOME-V3 PROBAND 1659932A