Gaucher Disease Carrier Screening
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms |
Gauchers DNA GAUDNA |
| Cerner Primary Mnemonic | Gauchers DNA |
| EPIC Display Name | Gaucher Disease Carrier Screening |
| Allscripts (AEHR) Order Name | Gauchers DNA |
| Sunrise Clinical Manager (SCM) Order Name | Gauchers DNA |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results |
GAUDNA |
| Clinical Info |
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. |
| Specimen Type |
Blood |
| Container |
Lavender Top Tube |
| Collection Instructions |
Container/Tube: Lavender-top (EDTA) tube(s) Specimen: 4 mL of EDTA whole blood or Bone Marrow(0.3 mL min) Collection Instructions: Note: A signed “Patient Consent Form” is required for processing. |
| Transport Instructions |
Room Temperature or Refrigerated |
| Specimen Stability |
8 Days Room Temperature 8 Days Refrigerated Unacceptable Frozen |
| Methodology |
Polymerase Chain Reaction (PCR) • Next Generation Sequencing |
| Days Performed |
TAT: 10-16 days |
| Performing Laboratory |
Quest Diagnostic Laboratories |
| CPT |
81251 LOINC Code: 41104-1 |
| PDM |
5910530 |
Desired Epic Build Gaucher Disease Carrier Screening
| Cerner Primary Mnemonic: | Gauchers DNA | ||||||
| PDM | 5910530 | ||||||
| Informatics - Workgroup | Molecular-send outs | ||||||
| Synonyms * | Gauchers DNA GAUDNA | ||||||
| Display Name * | Gaucher Disease Carrier Screening | ||||||
| Order Entry Specimen Sources * | |||||||
| Order Entry Specimen Types |
Blood
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| Specimen Navigator Specimen Types | |||||||
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| 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 | Yes | ||||||
| OP Orderable | Yes | ||||||
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AOEs * | |||||||
| AP AOEs | |||||||
| Special History | No | ||||||
| Build Comments | |||||||
| Filter * | genetics | ||||||
| Procedure Category Change | |||||||
Cerner Results
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Current Actual EPIC Build as of 10/28/2024
| Procedure Id | 115457 | ||||||||||||
| Pdm | 5910530 | ||||||||||||
| Order Display Name | Gaucher Disease 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 | ||||||||||||
| Clinically Active | |||||||||||||
| Orderable | |||||||||||||
| Performable | |||||||||||||
| 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 | ||||||||||||
| Specimen Source Default - Male | Blood, Venous | ||||||||||||
| Specimen Source Default - Female | Blood, Venous | ||||||||||||
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| Op Specimen Source List | |||||||||||||
| Ip Lab Test Components For Report | |||||||||||||
| Op Lab Test Components For Report | |||||||||||||
| Order Questions | ["3048500000"] | ||||||||||||
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| Inpatient Order Questions | ["3048500000"] | ||||||||||||
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| Order Specific Question Override | |||||||||||||
| Inpatient Question Override | |||||||||||||
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| 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 | ||||||||||||
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| Derived Edp Op Buttons S | |||||||||||||
| Derived Edp Op Buttons T | |||||||||||||
| Ip Orderable | 1 | ||||||||||||
| Op Orderable | 1 | ||||||||||||
EPIC OP AOEs
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EPIC IP AOEs
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EPIC Components (results)
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