XomeDxPlus (Whole Exome Sequence + mtDNA)-Trio
Desired Epic Build
* = editable field
| Cerner Primary Mnemonic: | XomeDxPlus (WES+mtDNA)-TRIO | ||||||
| PDM | 1659930 | ||||||
| Informatics - Workgroup | Molecular-send outs | ||||||
| Synonyms * | HG19 ExV3P EXOME Trio | ||||||
| Display Name * | XomeDxPlus (Whole Exome Sequence + mtDNA)-Trio | ||||||
| Specimen Sources (combined Order Entry and Specimen Navigator) * | |||||||
| Specimen Types (combined Order Entry and Specimen Navigator) * |
Blood
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| Body Fluids (types sent through AOEs) | |||||||
| Specimen Navigator Specimen Types | |||||||
| Specimen Navigator Specimen Sources | |||||||
| Specimen Navigator Short Name | |||||||
| Ordering info (EPIC SmartText) | 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 terms 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 material. 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 testing. Indicate Patient, Mother, Father on specimens. DO NOT label parents with child labels GeneDx Code 561a-7 + 561m | ||||||
| IP Orderable (inpatient) | Yes | ||||||
| OP Orderable (outpatient) | Yes | ||||||
| AOEs * | |||||||
| AP AOEs | |||||||
| Special History | No | ||||||
| Build Comments | |||||||
| Filter * | genetics | ||||||
| Cerner Site Restrict | Gene DX Laboratory GeneDx Laboratory Northwell Health Laboratories | ||||||
Cerner Results
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Actual Epic Build 3/11/2025
| PROCEDURE ID | 115507 | ||||||||||||
| PDM | 1659930 | ||||||||||||
| ORDER DISPLAY NAME | XomeDxPlus (WES+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 |
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| CLINICALLY ACTIVE | |||||||||||||
| ORDERABLE | |||||||||||||
| PERFORMABLE | |||||||||||||
| 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 |
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| 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 |
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| 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 | XENOMED | ||||||||||||
| OP LAB TEST COMPONENTS FOR REPORT | XENOMED | ||||||||||||
| ORDER QUESTIONS | ["3048500000"] | ||||||||||||
| ORDER QUESTIONS RECORD NAME | |||||||||||||
| INPATIENT ORDER QUESTIONS | ["3048500000"] | ||||||||||||
| 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 | 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
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EPIC IP AOEs
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EPIC Components (results - crosswalked through Cerner)
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