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.

Horizon 14 Carrier Screen

Desired Epic Build * = editable field

Cerner Primary Mnemonic:

Horizon 14 Carrier Screen

PDM

245600

Informatics - Workgroup

Genetics

Synonyms *

H14
Natera
Carrier Screen

Display Name *

Horizon 14 Carrier Screen

Specimen Sources (combined Order Entry and Specimen Navigator) *

Specimen Types (combined Order Entry and Specimen Navigator) *

Blood

Body Fluids (types sent through AOEs)

Specimen Navigator Specimen Types

Specimen Navigator Specimen Sources

Specimen Navigator Short Name

HORIZON14

Ordering info (EPIC SmartText)

Horizon provides comprehensive screening using the latest technology, includingnext-generation sequencing. Horizon screens for genes associated with specificinherited genetic conditions.

IP Orderable (inpatient)

OP Orderable (outpatient)

Yes

AOEs *

AP AOEs

Special History

Build Comments

Filter *

Cerner Site Restrict

Natera Laboratory

Cerner Results

Result Desc	Result display	Result PDM
Galactosemia	GALT	225281DC
Medium Chain Acyl-CoA Dehydrogenase Def	ACADM	225281FK
Alpha-Thalassemia	HBA1/HBA2	225281P
Familial Dysautonomia	IKBKAP	225281CQ
Report Summary	REPORT SUM	225043A
Cystic Fibrosis	CFTR	225281CB
Footnotes	FOOTNTE	225043D
Tay-Sachs Disease	HEXA	225281IW
Report Note	REPORTNOTE	225043C
Canavan Disease	ASPA	225281AP
Duchenne/Becker Muscular Dystrophy	DMD	225281CF
Panel Notes	PANEL NOTES	225043B
Smith-Lemli-Opitz Syndrome	DHCR7	225281IR
Spinal Muscular Atrophy	SMN1	225281IS
Beta-Hemoglobinopathies	HBB	225281AL
Gaucher Disease	GBA	225281DD
Polycystic Kidney Disease, Autosomal Rec	PKHD1	225281HK
Fragile X Syndrome	FMR1	225281CZ
PDF Report	PDF NAT	225043E

Actual Epic Build 3/11/2025

PROCEDURE ID

183745

PDM

245600

ORDER DISPLAY NAME

Horizon 14 Carrier Screen

PROCEDURE NAME

HORIZON 14 CARRIER SCREEN

PROCEDURE MASTER NUMBER

LAB14192

SHORT PROCEDURE NAME

HORIZON 14 CARRIER SCREEN

CATEGORY CODE

21.0

CATEGORY CODE RECORD NAME

LAB MOLECULAR DIAGNOSTICS ORDERABLES

SYNONYMS

H14
Naters
Carrier Screen

CLINICALLY ACTIVE

Yes

ORDERABLE

Yes

PERFORMABLE

Yes

FILTER GENOMICS

REFERENCE LINK URL

https://labs.northwell.edu/epic/test/183745

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

REPRTSUM
CYSTICFIB
DUCHBECKMD
FRAGILEX
SMA
ATHALASS
BHEMOGLOB
CANAVAN
FAMDYSA
GAUCHER
GALACTOSEMIA
ACYLCOA
POLYCYSKID
SLOS
TAYSACHSDIS
PANELNOTE
REPORTNOTE
FOOTNOTES
PDF

OP LAB TEST COMPONENTS FOR REPORT

REPRTSUM
CYSTICFIB
DUCHBECKMD
FRAGILEX
SMA
ATHALASS
BHEMOGLOB
CANAVAN
FAMDYSA
GAUCHER
GALACTOSEMIA
ACYLCOA
POLYCYSKID
SLOS
TAYSACHSDIS
PANELNOTE
REPORTNOTE
FOOTNOTES
PDF

ORDER QUESTIONS

["3045300062", "3045300105"]

ORDER QUESTIONS RECORD NAME

NH IP PATIENT PREGNANT
NH IP CONSENT ORDER COMMENT

INPATIENT ORDER QUESTIONS

["3045300062", "3045300105"]

INPATIENT ORDER QUESTIONS RECORD NAME

NH IP PATIENT PREGNANT
NH IP CONSENT ORDER COMMENT

ORDER SPECIFIC QUESTION OVERRIDE

Yes

INPATIENT QUESTION OVERRIDE

Yes

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

OP ORDERABLE

STANDARD LAB COMPONENTS

STANDARD LAB COMPONENTS RECORD NAME

COMPONENT DATA REQUIREMENT

EPIC OP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3045300062	NH IP PATIENT PREGNANT	Patient Pregnant	Yes/No		No
3045300105	NH IP CONSENT ORDER COMMENT	Consent Order Comment	Free Text		Yes

EPIC IP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3045300062	NH IP PATIENT PREGNANT	Patient Pregnant	Yes/No		No
3045300105	NH IP CONSENT ORDER COMMENT	Consent Order Comment	Free Text		Yes

EPIC Components (results - crosswalked through Cerner)

Component ID	Component Name	Base Name	Common Name	Cerner Result PDM
3047805503.0	GALACTOSEMIA	GALACTOSEMIA	GALACTOSEMIA	225281DC
3047803418.0	MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEF	ACYLCOA	MEDIUM CHAIN ACYL COA DEHYDROGENASE DEF	225281FK
3047800961.0	ALPHA-THALASSEMIA	ATHALASS	ALPHA THALASSEMIA	225281P
3047805478.0	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA	FAMDYSA	HORIZON 274 CARRIER SCREEN FAMILIAL DYSAUTONOMIA	225281CQ
3047804538.0	REPORT SUMMARY	REPRTSUM	REPORT SUMMARY	225043A
3047805455.0	CYSTIC FIBROSIS	CYSTICFIB	CYSTIC FIBROSIS	225281CB
3047805495.0	NATERA FOOTNOTES	FOOTNOTES	NATERA FOOTNOTES	225043D
3047804913.0	TAY-SACHS DISEASE	TAYSACHSDIS	TAY SACHS DISEASE	225281IW
3047805629.0	REPORT NOTES	REPORTNOTE	REPORTNOTE, NOTES	225043C
3047805414.0	CANAVAN DISEASE	CANAVAN	CANAVAN DISEASE	225281AP
3047802242.0	DUCHENNE/BECKER MUSCULAR DYSTROPHY	DUCHBECKMD	DUCHENNE BECKER MUSCULAR DYSTROPHY	225281CF
3047803954.0	PANEL NOTES	PANELNOTE	PANEL NOTES	225043B
3047805651.0	SMITH-LEMLI-OPITZ SYNDROME	SLOS	SLOS, SYNDROME	225281IR
3047805657.0	HORIZON 274 CARRIER SCREEN SPINAL MUSCULAR ATROPHY	SMA	SMA, ATROPHY	225281IS
3047801369.0	BETA-HEMOGLOBINOPATHIES	BHEMOGLOB	BETA HEMOGLOBINOPATHIES	225281AL
3047805505.0	GAUCHER DISEASE	GAUCHER	GAUCHER DISEASE	225281DD
3047804208.0	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC	POLYCYSKID	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL REC	225281HK
3047805497.0	FRAGILE X SYNDROME	FRAGILEX	FRAGILE X SYNDROME	225281CZ
3047805609.0	PDF REPORT	PDF	PDF, REPORT	225043E

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.

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Horizon 14 Carrier Screen

Desired Epic Build * = editable field

Actual Epic Build 3/11/2025 Save Test to CSV

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.

Actual Epic Build 3/11/2025