Hereditary Inclusion Body Myopathy (HIBM) Mutation Molecular Detection
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms | GNE, GNE M712T testing, Hereditary inclusion body myopathy |
| Cerner Primary Mnemonic | HLX HIBM CASE |
| EPIC Display Name | Hereditary Inclusion Body Myopathy (HIBM) Mutation Molecular Detection |
| Allscripts (AEHR) Order Name | HIBM |
| Sunrise Clinical Manager (SCM) Order Name | Not Orderable |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results | |
| Clinical Info |
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. |
| Specimen Type |
Blood |
| Container |
Lavender Top Tube |
| Collection Instructions |
Container/Tube: Lavender EDTA tube Specimen: 1-3 ml of peripheral blood Transport Temperature: Room Temperature Note: Pertinent medical information including patient's age, suspected diagnosis and a signed "Patient Consent Form" are required on request form for processing. |
| Transport Instructions |
Room Temperature |
| Specimen Stability |
Specimens are stable for a week refrigerated. |
| Methodology |
Real-Time Polymerase Chain Reaction (PCR) |
| Days Performed |
Monday through Friday TAT: 8 Calendar days |
| Performing Laboratory |
Northwell Health Laboratories |
| CPT |
81479 |
| PDM |
5157200 |
Desired Epic Build Hereditary Inclusion Body Myopathy (HIBM) Mutation Molecular Detection
| 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 |
| Order Entry Specimen Sources * | |
| Order Entry Specimen Types |
Blood
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| 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 | Yes |
| OP Orderable | Yes |
|
AOEs * | |
| AP AOEs | |
| Special History | No |
| Build Comments | |
| Filter * | genetics |
| Procedure Category Change | |
| Cerner Results | |
Current Actual EPIC Build as of 10/28/2024
| 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. | ||||||||||||
| Default Specimen Type | Blood | ||||||||||||
| Specimen Type Pick List | Blood | ||||||||||||
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| 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 | Blood, Venous Blood, Central Line Blood, Arterial Blood, Capillary | ||||||||||||
| Op Specimen Source List | |||||||||||||
| Ip Lab Test Components For Report | HLXHIBMFR | ||||||||||||
| Op Lab Test Components For Report | HLXHIBMFR | ||||||||||||
| Order Questions | ["3048500000"] | ||||||||||||
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| Inpatient Order Questions | ["3048500000"] | ||||||||||||
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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 Ip Buttons S | |||||||||||||
| Derived Edp Ip Buttons T | |||||||||||||
| 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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