Epic Build / Desired Build Test Compendium
Welcome to the new Northwell Health Labs Epic Build / Desired Build Test Directory! Please email ClinicalLabInformatics@northwell.edu with any typos, corrections or issues.

XomeDxPlus (Whole Exome Sequence + mtDNA)-Trio Epic Compendium  

Desired Epic Build * = editable field  

Actual Epic Build 8/10/2026

PROCEDURE ID 115507
PDM 1659930
ORDER DISPLAY NAME XomeDxPlus (Whole Exome Sequence + 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 Yes
ORDERABLE Yes
PERFORMABLE Yes
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 Blood, Venous
SPECIMEN SOURCE DEFAULT - FEMALE Blood, Venous
SPECIMEN SOURCE LIST
OP SPECIMEN SOURCE LIST
IP LAB TEST COMPONENTS FOR REPORT SPECAPPEAR
VARIANTINFO
XENOMED
OP LAB TEST COMPONENTS FOR REPORT SPECAPPEAR
VARIANTINFO
XENOMED
ORDER QUESTIONS ["3046700918", "3048500000", "3045900001", "3045900002", "3045900003", "3045900004", "3045900005", "3045900006", "3045900007", "3045900008", "3045900009", "3048500000"]
ORDER QUESTIONS RECORD NAME NH IP XOMEDX
NH IP PATIENT COMPLETED CONSENT
NH IP LAB PATIENT ACMG
NH IP LAB RELATIVE 1 ACMG
NH IP LAB RELATIVE 2 ACMG
NH IP LAB RELATIVE 1 NAME
NH IP LAB RELATIVE 2 NAME
NH IP LAB RELATIVE 1 DOB
NH IP LAB RELATIVE 2 DOB
NH IP LAB RELATIVE 1 RELATIONSHIP
NH IP LAB RELATIVE 2 RELATIONSHIP
INPATIENT ORDER QUESTIONS ["3046700918", "3048500000", "3045900001", "3045900002", "3045900003", "3045900004", "3045900005", "3045900006", "3045900007", "3045900008", "3045900009", "3048500000"]
INPATIENT ORDER QUESTIONS RECORD NAME NH IP XOMEDX
NH IP PATIENT COMPLETED CONSENT
NH IP LAB PATIENT ACMG
NH IP LAB RELATIVE 1 ACMG
NH IP LAB RELATIVE 2 ACMG
NH IP LAB RELATIVE 1 NAME
NH IP LAB RELATIVE 2 NAME
NH IP LAB RELATIVE 1 DOB
NH IP LAB RELATIVE 2 DOB
NH IP LAB RELATIVE 1 RELATIONSHIP
NH IP LAB RELATIVE 2 RELATIONSHIP
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
STANDARD LAB COMPONENTS
STANDARD LAB COMPONENTS RECORD NAME
COMPONENT DATA REQUIREMENT
EPIC OP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3045900001 NH IP LAB PATIENT ACMG Does the patient want to receive ACMG secondary findings? Yes/No Yes
3045900002 NH IP LAB RELATIVE 1 ACMG Relative 1 ACMG findings preference: Yes/No Yes
3045900003 NH IP LAB RELATIVE 2 ACMG Relative 2 ACMG findings preference: Yes/No Yes
3045900004 NH IP LAB RELATIVE 1 NAME Relative 1 name (first and last): Free Text Yes
3045900005 NH IP LAB RELATIVE 2 NAME Relative 2 name (first and last): Free Text Yes
3045900006 NH IP LAB RELATIVE 1 DOB Relative 1 DOB: Date Yes
3045900007 NH IP LAB RELATIVE 2 DOB Relative 2 DOB: Date Yes
3045900008 NH IP LAB RELATIVE 1 RELATIONSHIP Relative 1 relationship to proband: Custom List Mother
Father
Sibling
Other
Yes
3045900009 NH IP LAB RELATIVE 2 RELATIONSHIP Relative 2 relationship to proband: Custom List Father
Mother
Sibling
Other
Yes
3046700918 NH IP XOMEDX Add Mitochondrial Seq & Del testing? Yes/No Yes
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
EPIC IP AOEs

Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response
3045900001 NH IP LAB PATIENT ACMG Does the patient want to receive ACMG secondary findings? Yes/No Yes
3045900002 NH IP LAB RELATIVE 1 ACMG Relative 1 ACMG findings preference: Yes/No Yes
3045900003 NH IP LAB RELATIVE 2 ACMG Relative 2 ACMG findings preference: Yes/No Yes
3045900004 NH IP LAB RELATIVE 1 NAME Relative 1 name (first and last): Free Text Yes
3045900005 NH IP LAB RELATIVE 2 NAME Relative 2 name (first and last): Free Text Yes
3045900006 NH IP LAB RELATIVE 1 DOB Relative 1 DOB: Date Yes
3045900007 NH IP LAB RELATIVE 2 DOB Relative 2 DOB: Date Yes
3045900008 NH IP LAB RELATIVE 1 RELATIONSHIP Relative 1 relationship to proband: Custom List Mother
Father
Sibling
Other
Yes
3045900009 NH IP LAB RELATIVE 2 RELATIONSHIP Relative 2 relationship to proband: Custom List Father
Mother
Sibling
Other
Yes
3046700918 NH IP XOMEDX Add Mitochondrial Seq & Del testing? Yes/No Yes
3048500000 NH IP PATIENT COMPLETED CONSENT Patient completed consent? Yes/No Yes
EPIC Components (results - crosswalked through Cerner)

Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM
3047805312.0 XOMEDXPLUS (WES+MTDNA)-TRIO XENOMED XOMEDXPLUS WES MTDNA TRIO XomeDxPlus (WES+mtDNA)-TRIO 1659930A