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.

MaterniT Genome

Desired Epic Build * = editable field

Cerner Primary Mnemonic:

MaterniT Genome

PDM

225135

Informatics - Workgroup

Molecular-send outs

Synonyms *

MarterniT 21
MATTG

Display Name *

MaterniT Genome

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

Ordering info (EPIC SmartText)

The MaterniT Genome test provides comprehensive chromosome copy number analysis including unbalanced derivatives and, information about deletions or duplications of chromosome material 7 Mb or larger, as well as analysis of seven clinically relevant microdeletions less than 7 Mb in size.

IP Orderable (inpatient)

Yes

OP Orderable (outpatient)

Yes

AOEs *

AP AOEs

Special History

Build Comments

Filter *

genetics

Cerner Site Restrict

AML/Quest Labs
Bio Reference Laboratory
BioReference Health LLC
Counsyl Laboratory
Illumina Laboratories
LabCorp
Mayo Medical Labs
Medtox Laboratories
Northwell Health Laboratories

Cerner Results

Result Desc	Result display	Result PDM
Approved By	Approved By	225135E
XXX (Triple X Syndrome)	XXX (Triple X Syndrome)	225135N
Lab Director Comments	Lab Director Comments	225135D
Performance	Performance	225135AB
XXY (Klinefelter Syndrome)	XXY (Klinefelter Syndrome)	225135M
Positive Predictive Value	Positive Predictive Value	225135X
5p15 deletion (Cri-du-chat)	5p15 deletion (Cri-du-chat)	225135T
Test Method	Test Method	225135Z
Monosomy X (Turner Syndrome)	Monosomy X (Turner Syndrome)	225135K
8q24 deletion (Langer-Giedion)	8q24 deletion (Langer-Giedion)	225135S
Trisomy 13 (Patau Synd)	Trisomy 13 (Patau Synd)	225135H
XYY (Jacobs Syndrome)	XYY (Jacobs Syndrome)	225135L
PDF	PDF	221533AF
Note	Note	225135AE
Gains/Losses >=7 Mb	Gains/Losses >=7 Mb	225135O
1p36 deletion syndrome	1p36 deletion syndrome	225135W
4p16 deletion(Wolf-Hirschhorn)	4p16 deletion(Wolf-Hirschhorn)	225135U
Limitations of the Test	Limitations of the Test	225135AD
Trisomy 18 (Edwards Synd)	Trisomy 18 (Edwards Synd)	225135G
References	REF	5910709
Test Result	Test Result	225135C
Performance Characteristics	Performance Characteristics	225135AC
About the Test	About the Test	225135Y
Fetal Fraction	Fetal Fraction	1659834P
LMP Date	LMP Date	1759834G
11q23 deletion (Jacobsen)	11q23 deletion (Jacobsen)	225135R
15q11 deletion (PW Angelman)	15q11 deletion (PW Angelman)	225135Q
Trisomy 21 (Down Synd)	Trisomy 21 (Down Synd)	225135F
Other autosomal aneuploidies	Other autosomal aneuploidies	225135I
Fetal Sex	Fetal Sex	225135J
Gestation	Gestation	225135A
Gestational Age > or = 9w:	Gestational Age > or = 9w:	225135B
Estimated Due Date (EDC):	E Due Date	1759834B
22q11 deletion (DiGeorge)	22q11 deletion (DiGeorge)	225135P

Actual Epic Build 4/21/2025

PROCEDURE ID

137013

PDM

225135

ORDER DISPLAY NAME

MaterniT Genome

PROCEDURE NAME

MATERNIT GENOME

PROCEDURE MASTER NUMBER

LAB12254

SHORT PROCEDURE NAME

MATERNIT GENOME

CATEGORY CODE

1.0

CATEGORY CODE RECORD NAME

LAB BLOOD ORDERABLES

SYNONYMS

MarterniT 21
MATTG

CLINICALLY ACTIVE

Yes

ORDERABLE

Yes

PERFORMABLE

Yes

FILTER GENOMICS

Generic Genomics Procedure

REFERENCE LINK URL

https://labs.northwell.edu/epic/test/137013

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

FETALFRACT
REFERENCES
PDF

OP LAB TEST COMPONENTS FOR REPORT

FETALFRACT
REFERENCES
PDF

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

Blood, Venous
Blood, Central Line
Blood, Arterial
Blood, Capillary

EDP OP SPECIMEN SOURCE

EDP IP SPECIMEN TYPE

Blood

EDP OP SPECIMEN TYPE

DERIVED EDP IP BUTTONS S

Blood, Venous
Blood, Central Line
Blood, Arterial
Blood, Capillary

DERIVED EDP IP BUTTONS T

Blood

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

EPIC IP AOEs

EPIC Components (results - crosswalked through Cerner)

Component ID	Component Name	Base Name	Common Name	External Name	Cerner Result PDM
3047806828.0	APPROVED BY	APPORVEDBY	APPROVED BY	Approved By	225135E
3047806774.0	XXX (TRIPLE X SYNDROME)	XXX	XXX TRIPLE X SYNDROME	Xxx (Triple X Syndrome)	225135N
3047806408.0	LAB DIRECTOR COMMENTS	LABDIRCOM	LAB DIRECTOR COMMENTS	Lab Director Comments	225135D
3047806804.0	PERFORMANCE	PERFORMANCE	PERFORMANCE	Performance	225135AB
3047806795.0	XXY (KLINEFELTER SYNDROME)	XXY	XXY KLINEFELTER SYNDROME	Xxy (Klinefelter Syndrome)	225135M
3047806425.0	POSITIVE PREDICTIVE VALUE	POSPREDVAL	POSITIVE PREDICTIVE VALUE	Positive Predictive Value	225135X
3047806294.0	5P15 DELETION (CRI-DU-CHAT)	5P15DELET	5P15 DELETION CRI DU CHAT	5P15 Deletion (Cri-Du-Chat)	225135T
3047804929.0	TEST METHOD	TESTMETH	TEST METHOD	Test Method	225135Z
3047805897.0	MONOSOMY X (TURNER SYNDROME)	MONOSOMYX	MONOSOMY X TURNER SYNDROME	Monosomy X (Turner Syndrome)	225135K
3047806830.0	8Q24 DELETION (LANGER-GIEDION)	8Q24DELET	8Q24 DELETION LANGER GIEDION	8Q24 Deletion (Langer-Giedion)	225135S
3046400008.0	TRISOMY 13 (PATAU SYND)	TRISOMY13	TRISOMY 13 (PATAU SYND)	TRISOMY 13 (PATAU SYND)	225135H
3047806794.0	XYY (JACOBS SYNDROME)	XYY	XYY JACOBS SYNDROME	Xyy (Jacobs Syndrome)	225135L
3047805610.0	PDF AFP RESULT	PDF	PDF, RESULT	Pdf Afp Result	221533AF
3046400005.0	NOTE	NOTE	NOTE	NOTE	225135AE
3047806824.0	GAINS/LOSSES >=7 MB	GAINLOSS	GAINS LOSSES GREATER THAN OR EQUAL TO 7 MB	Gains/Losses >=7 Mb	225135O
3047800768.0	1P36 DELETION SYNDROME RESULT	1P36DELSYN	1P36DELSYN		225135W
3047806831.0	4P16 DELETION(WOLF-HIRSCHHORN)	4P16DELET	4P16 DELETION WOLF HIRSCHHORN	4P16 Deletion(Wolf-Hirschhorn)	225135U
3046400004.0	LIMITATIONS OF THE TEST	LIMITOFTEST	LIMITATIONS OF THE TEST	LIMITATIONS OF THE TEST	225135AD
3046400007.0	TRISOMY 18 (EDWARDS SYND)	TRISOMY18	TRISOMY 18 (EDWARDS SYND)	TRISOMY 18 (EDWARDS SYND)	225135G
3047804491.0	REFERENCES	REFERENCES	REFERENCES	References	5910709
3047806701.0	TEST RESULT	TESTRESULT	TEST RESULT	Test Result	225135C
3047806803.0	PERFORMANCE CHARACTERISTICS	PERFOMCHAR	PERFORMANCE CHARACTERISTICS	Performance Characteristics	225135AC
3047806440.0	ABOUT THE TEST	ABOUTTEST	ABOUT THE TEST	About The Test	225135Y
3047802440.0	FETAL FRACTION	FETALFRACT	FETAL FRACTION		1659834P
3047803310.0	LMP DATE	LMP	LMP DATE	Lmp Date	1759834G
3047806834.0	11Q23 DELETION (JACOBSEN)	11Q23DELET	11Q23 DELETION JACOBSEN	11Q23 Deletion (Jacobsen)	225135R
3047806293.0	15Q11 DELETION (PW ANGELMAN)	15Q11DELET	15Q11 DELETION PW ANGELMAN	15Q11 Deletion (Pw Angelman)	225135Q
3046400006.0	TRISOMY 21 (DOWN SYND)	TRISOMY21	TRISOMY 21 (DOWN SYND)	TRISOMY 21 (DOWN SYND)	225135F
3047806360.0	OTHER AUTOSOMAL ANEUPLOIDIES	OTHERAUTOANE	OTHER AUTOSOMAL ANEUPLOIDIES	Other Autosomal Aneuploidies	225135I
3047805983.0	FETAL SEX	FETALSEX	FETAL SEX	Fetal Sex	225135J
3047806196.0	GESTATION	GESTATION	GESTATION	Gestation	225135A
3047806197.0	GESTATIONAL AGE > OR = 9W:	GESTAGE	GESTATIONAL AGE GREATER THAN OR EQUAL TO 9W	Gestational Age > Or = 9W:	225135B
3047802251.0	E DUE DATE	EDUEDT	E DUE DATE	E Due Date	1759834B
3047806832.0	22Q11 DELETION (DIGEORGE)	22Q11DELET	22Q11 DELETION DIGEORGE	22Q11 Deletion (Digeorge)	225135P

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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MaterniT Genome

Desired Epic Build * = editable field

Actual Epic Build 4/21/2025 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 4/21/2025