| 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 | No |
| 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 |
|
| 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, Central Line
Blood, Arterial
Blood, Capillary
Blood, Venous |
| 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 ID | Component Name | Base Name | Common Name | External Name | Cerner Result PDM |
|---|
| 3047806828.0 |
APPROVED BY |
APPORVEDBY |
APPROVED BY |
|
225135E |
| 3047806774.0 |
XXX (TRIPLE X SYNDROME) |
XXX |
XXX TRIPLE X SYNDROME |
|
225135N |
| 3047806408.0 |
LAB DIRECTOR COMMENTS |
LABDIRCOM |
LAB DIRECTOR COMMENTS |
|
225135D |
| 3047806804.0 |
PERFORMANCE |
PERFORMANCE |
PERFORMANCE |
|
225135AB |
| 3047806795.0 |
XXY (KLINEFELTER SYNDROME) |
XXY |
XXY KLINEFELTER SYNDROME |
|
225135M |
| 3047806425.0 |
POSITIVE PREDICTIVE VALUE |
POSPREDVAL |
POSITIVE PREDICTIVE VALUE |
|
225135X |
| 3047806294.0 |
5P15 DELETION (CRI-DU-CHAT) |
5P15DELET |
5P15 DELETION CRI DU CHAT |
|
225135T |
| 3047804929.0 |
TEST METHOD |
TESTMETH |
TEST METHOD |
|
225135Z |
| 3047805897.0 |
MONOSOMY X (TURNER SYNDROME) |
MONOSOMYX |
MONOSOMY X TURNER SYNDROME |
|
225135K |
| 3047806830.0 |
8Q24 DELETION (LANGER-GIEDION) |
8Q24DELET |
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 |
|
225135L |
| 3047805610.0 |
PDF AFP RESULT |
PDF |
PDF, RESULT |
|
221533AF |
| 3046400005.0 |
NOTE |
NOTE |
NOTE |
NOTE |
225135AE |
| 3047800768.0 |
1P36 DELETION SYNDROME RESULT |
1P36DELSYN |
1P36DELSYN |
|
225135W |
| 3047806831.0 |
4P16 DELETION(WOLF-HIRSCHHORN) |
4P16DELET |
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 |
|
5910709 |
| 3047806701.0 |
TEST RESULT |
TESTRESULT |
TEST RESULT |
|
225135C |
| 3047806803.0 |
PERFORMANCE CHARACTERISTICS |
PERFOMCHAR |
PERFORMANCE CHARACTERISTICS |
|
225135AC |
| 3047806440.0 |
ABOUT THE TEST |
ABOUTTEST |
ABOUT THE TEST |
|
225135Y |
| 3047802440.0 |
FETAL FRACTION |
FETALFRACT |
FETAL FRACTION |
|
1659834P |
| 3047803310.0 |
LMP DATE |
LMP |
LMP DATE |
|
1759834G |
| 3047806834.0 |
11Q23 DELETION (JACOBSEN) |
11Q23DELET |
11Q23 DELETION JACOBSEN |
|
225135R |
| 3047806293.0 |
15Q11 DELETION (PW ANGELMAN) |
15Q11DELET |
15Q11 DELETION PW ANGELMAN |
|
225135Q |
| 3046400006.0 |
TRISOMY 21 (DOWN SYND) |
TRISOMY21 |
TRISOMY 21 (DOWN SYND) |
TRISOMY 21 (DOWN SYND) |
225135F |
| 3047805983.0 |
FETAL SEX |
FETALSEX |
FETAL SEX |
|
225135J |
| 3047806196.0 |
GESTATION |
GESTATION |
GESTATION |
|
225135A |
| 3047806197.0 |
GESTATIONAL AGE > OR = 9W: |
GESTAGE |
GESTATIONAL AGE GREATER THAN OR EQUAL TO 9W |
|
225135B |
| 3047802251.0 |
E DUE DATE |
EDUEDT |
E DUE DATE |
|
1759834B |
| 3047806832.0 |
22Q11 DELETION (DIGEORGE) |
22Q11DELET |
22Q11 DELETION DIGEORGE |
|
225135P |
|
