Hereditary Inclusion Body Myopathy (HIBM) Mutation Molecular Detection
Desired Epic Build
* = editable field
| Cerner Primary Mnemonic: | HLX HIBM CASE |
| PDM | 5157200 |
| Informatics - Workgroup | Molpath inhouse |
| Synonyms * | GNE, GNE M712T testing, Hereditary inclusion body myopathy |
| Display Name * | Hereditary Inclusion Body Myopathy (HIBM) Mutation Molecular Detection |
| 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) | Hereditary inclusion body myopathy (HIBM) is a neuromuscular disorder characterized by slow progression of distal and proximal muscle weakness. The onset age of this condition is late teens to young adults leading to severe incapacitation within 10 to 20 years of the onset. The disease primarily causes progressive wasting of the arm and leg muscles sparing quadriceps until later in the disease course. Muscle biopsy shows rimmed vacuoles and filamentous inclusions composed of tubular filaments. This disease affects the Jewish Persian community and various Middle Eastern population clusters where it has a prevalence of 1:1500. In the Persian population the disease presents an unusual feature, sparing of the quadriceps. |
| IP Orderable (inpatient) | Yes |
| OP Orderable (outpatient) | Yes |
| AOEs * | |
| AP AOEs | |
| Special History | No |
| Build Comments | |
| Filter * | genetics |
| Cerner Site Restrict | |
| Cerner Results | |
Actual Epic Build 3/11/2025
| PROCEDURE ID | 115245 | ||||||||||||
| PDM | 5157200 | ||||||||||||
| ORDER DISPLAY NAME | Hereditary Inclusion Body Myopathy (HIBM) Mutation Molecular Detection | ||||||||||||
| PROCEDURE NAME | HEREDITARY INCLUSION BODY MYOPATHY | ||||||||||||
| PROCEDURE MASTER NUMBER | LAB11454 | ||||||||||||
| SHORT PROCEDURE NAME | HEREDITARY INCLUSION BODY MYOPATHY | ||||||||||||
| CATEGORY CODE | 21.0 | ||||||||||||
| CATEGORY CODE RECORD NAME | LAB MOLECULAR DIAGNOSTICS ORDERABLES | ||||||||||||
| SYNONYMS | GNE, GNE M712T TESTING, HEREDITARY INCLUSION BODY MYOPATHY | ||||||||||||
| CLINICALLY ACTIVE | Yes | ||||||||||||
| ORDERABLE | Yes | ||||||||||||
| PERFORMABLE | Yes | ||||||||||||
| FILTER GENOMICS | Generic Genomics Procedure | ||||||||||||
| REFERENCE LINK URL | https://labs.northwell.edu/epic/test/115245 | ||||||||||||
| ORDERING INSTRUCTIONS | Hereditary inclusion body myopathy (HIBM) is a neuromuscular disorder characterized by slow progression of distal and proximal muscle weakness. The onset age of this condition is late teens to young adults leading to severe incapacitation within 10 to 20 years of the onset. The disease primarily causes progressive wasting of the arm and leg muscles sparing quadriceps until later in the disease course. Muscle biopsy shows rimmed vacuoles and fila mentous inclusions composed of tubular filaments. This disease affects the Jewish Persian community and various Middle Eastern population clusters where it has a prevalence of 1:1500. In the Persian population the disease pre sents an unusual feature, sparing of the quadriceps. |
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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 | Blood, Venous Blood, Central Line Blood, Arterial Blood, Capillary |
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| OP SPECIMEN SOURCE LIST | |||||||||||||
| IP LAB TEST COMPONENTS FOR REPORT | HLXHIBMFR | ||||||||||||
| OP LAB TEST COMPONENTS FOR REPORT | HLXHIBMFR | ||||||||||||
| 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 | ||||||||||||
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| 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) | |||||||||||||