Gaucher Disease Targeted Mutation Carrier Screening Epic Compendium
Desired Epic Build
* = editable field
| Cerner Primary Mnemonic: | Gauchers DNA | ||||||||
| PDM | 5910530 | ||||||||
| Informatics - Workgroup | Molecular-send outs | ||||||||
| Synonyms * | Gauchers DNA GAUDNA | ||||||||
| Display Name * | Gaucher Disease Targeted Mutation Carrier Screening | ||||||||
| 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) | Gaucher Disease is an autosomal recessive lysosomal storage disease that leads to the accumulation of glucocerebroside in tissues. Approximately 1 in 10 individuals of Ashkenazi Jewish heritage is a carrier. | ||||||||
| IP Orderable (inpatient) | Yes | ||||||||
| OP Orderable (outpatient) | Yes | ||||||||
AOEs *
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| AP AOEs | |||||||||
| Special History | No | ||||||||
| Build Comments | |||||||||
| Filter * | genetics | ||||||||
| Cerner Site Restrict | AML/Quest Labs Bio Reference Laboratory BioReference Health LLC LabCorp Lab Northwell Health Laboratories Quest Diagnostics Sunrise Lab | ||||||||
Cerner Results
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Actual Epic Build 11/06/2025
| PROCEDURE ID | 115457 | ||||||||||||
| PDM | 5910530 | ||||||||||||
| ORDER DISPLAY NAME | Gaucher Disease Targeted Mutation Carrier Screening | ||||||||||||
| PROCEDURE NAME | GAUCHERS DNA | ||||||||||||
| PROCEDURE MASTER NUMBER | LAB11571 | ||||||||||||
| SHORT PROCEDURE NAME | GAUCHERS DNA | ||||||||||||
| CATEGORY CODE | 15.0 | ||||||||||||
| CATEGORY CODE RECORD NAME | LAB CYTOGENETICS ORDERABLES | ||||||||||||
| SYNONYMS | GAUCHERS DNA GAUDNA |
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| CLINICALLY ACTIVE | Yes | ||||||||||||
| ORDERABLE | Yes | ||||||||||||
| PERFORMABLE | Yes | ||||||||||||
| FILTER GENOMICS | Generic Genomics Procedure | ||||||||||||
| REFERENCE LINK URL | https://labs.northwell.edu/epic/test/115457 | ||||||||||||
| 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 |
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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 | GACHDNA | ||||||||||||
| OP LAB TEST COMPONENTS FOR REPORT | GACHDNA | ||||||||||||
| 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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