EPIC Test Compendium Alpha
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XomeDxPlus (WES+mtDNA)-Trio

Test Catalog Information

Test Catalog Synonyms

EPIC Synonyms HG19 ExV3P
EXOME Trio
Cerner Primary MnemonicXomeDxPlus (WES+mtDNA)-TRIO
EPIC Display NameXomeDxPlus (WES+mtDNA)-Trio
Allscripts (AEHR) Order Name

XomeDx (Whole Exome Sequencing) TRIO

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Inpatient Orderable Yes
EPIC Outpatient Orderable Yes
Cerner Results XomeDxPlus (WES+mtDNA)-TRIO
Clinical Info

XomeDx, or whole exome sequencing (WES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual. The XomeDx test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously. The XomeDx test targets the protein-coding regions of the human genome, which represents ~20,000 genes and accounts for approximately ~2% of all human genetic material. Determination of a clinical diagnosis Identification of gene implicated in genetic disease Recurrence risk assessment This is a Trio test which includes the Patient, Mother and/or Father to be draw and submitted for testing. Indicate Patient, Mother, Father on specimens. DO NOT label parents with child labels GeneDx Code 561a-7  + 561m

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube:  Lavender top tube Please include parental samples at time of draw Specimen: 2 - 5 mL whole blood 

Transport Instructions

Room Temperature

Specimen Stability

Methodology

Next-gen Sequencing

Days Performed

TAT:  6 Weeks

Performing Laboratory

GeneDx

CPT

81415 81416x2 81460 81465

PDM

1659930

Desired Epic Build XomeDxPlus (WES+mtDNA)-Trio

Cerner Primary Mnemonic: XomeDxPlus (WES+mtDNA)-TRIO
PDM 1659930
Informatics - WorkgroupMolecular-send outs
Synonyms *HG19 ExV3P
EXOME Trio
Display Name *XomeDxPlus (WES+mtDNA)-Trio
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)XomeDx, or whole exome sequencing (WES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual. The XomeDx test is different from other types of genetic diagnostic tests in terms of the number of genes that are sequenced simultaneously. The XomeDx test targets the protein-coding regions of the human genome, which represents ~20,000 genes and accounts for approximately ~2% of all human genetic material. Determination of a clinical diagnosis Identification of gene implicated in genetic disease Recurrence risk assessment This is a Trio test which includes the Patient, Mother and/or Father to be draw and submitted for testing. Indicate Patient, Mother, Father on specimens. DO NOT label parents with child labels GeneDx Code 561a-7  + 561m
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 Plus XomeDxPlus (WES+mtDNA)-TRIO 1659930A

Actual Epic build

Procedure Id 115507
Pdm 1659930
Order Display Name XomeDxPlus (WES+mtDNA)-TRIO
Procedure Name XOMEDXPLUS (WES+MTDNA)-TRIO
Procedure Master Number LAB11596
Short Procedure Name XOMEDXPLUS (WES+MTDNA)-TRIO
Category Code 15.0
Category Code Record Name LAB CYTOGENETICS ORDERABLES
Synonyms HG19 EXV3P EXOME TRIO
Clinically Active
Orderable
Performable
Filter Genomics Generic Genomics Procedure
Reference Link Url https://labs.northwell.edu/epic/test/115507
Ordering Instructions XomeDx, or whole exome sequencing (WES), can be used to identify the underlying molecular basis of a genetic disorder in an affected individual. The XomeDx test is different from other types of genetic diagnostic tests in ter ms of the number of genes that are sequenced simultaneously. The XomeDx test targets the protein-coding regions of the human genome, which represents ~20,000 genes and accounts for approximately ~2% of all human genetic mater ial.  Determination of a clinical diagnosis Identification of gene implicated in genetic disease Recurrence risk assessment This is a Trio test which includes the Patient, Mother and/or Father to be draw and submitted for tes ting.   IndicatePatient, Mother, Fatheron specimens.   DO NOT label parents with child labels
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
3047805312.0 XOMEDXPLUS (WES+MTDNA)-TRIO XOMEDTRIO XOMEDXPLUS (WES+ MTDNA)-TRIO 1659930A