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MaterniT Genome Epic Compendium  

Desired Epic Build * = editable field  

Cerner Primary Mnemonic: MaterniT Genome
PDM 225135
Informatics - WorkgroupMolecular-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 No 
 
    
Build Comments

    
Filter *genetics

    
    
Cerner Site RestrictAML/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 10/22/2025
    






                

        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
        11Q23DELET
15Q11DELET
1P36DELSYN
22Q11DELET
4P16DELET
5P15DELET
8Q24DELET
ABOUTTEST
APPORVEDBY
FETALFRACT
FETALSEX
GAINLOSS
GESTAGE
GESTATION
LABDIRCOM
LIMITOFTEST
MONOSOMYX
NOTE
OTHERAUTOANE
PDF
PERFOMCHAR
PERFORMANCE
POSPREDVAL
REFERENCES
SPECAPPEAR
TESTMETH
TESTRESULT
TRISOMY13
TRISOMY18
TRISOMY21
XXX
XXY
XYY		
    

        

        OP LAB TEST COMPONENTS FOR REPORT
        11Q23DELET
15Q11DELET
1P36DELSYN
22Q11DELET
4P16DELET
5P15DELET
8Q24DELET
ABOUTTEST
APPORVEDBY
FETALFRACT
FETALSEX
GAINLOSS
GESTAGE
GESTATION
LABDIRCOM
LIMITOFTEST
MONOSOMYX
NOTE
OTHERAUTOANE
PDF
PERFOMCHAR
PERFORMANCE
POSPREDVAL
REFERENCES
SPECAPPEAR
TESTMETH
TESTRESULT
TRISOMY13
TRISOMY18
TRISOMY21
XXX
XXY
XYY		
    

        

        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, Capillary
Blood, Central Line
Blood, Arterial		
    

        

        DERIVED EDP IP BUTTONS T
        Blood
    

        

        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


            


    
EPIC IP AOEs


            


    
EPIC Components (results - crosswalked through Cerner)


                

            
Component IDComponent NameBase NameCommon NameExternal NameCerner 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 Syndrome)
                225135H
            

                        

                3047806794.0
                XYY (JACOBS SYNDROME)
                XYY
                XYY JACOBS SYNDROME
                XYY (Jacobs Syndrome)
                225135L
            

                        

                3047805610.0
                PDF AFP RESULT
                PDF
                PDF, RESULT
                PDF
                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
                1p36 deletion syndrome
                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 Syndrome)
                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
                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 Syndrome)
                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
                Estimated Due Date
                1759834B
            

                        

                3047806832.0
                22Q11 DELETION (DIGEORGE)
                22Q11DELET
                22Q11 DELETION DIGEORGE
                22q11 deletion (DiGeorge)
                225135P