Spinal Muscular Atrophy (SMA) Molecular Detection
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms |
SMN1 SMN2 |
| Cerner Primary Mnemonic | HLX Spinal Muscular Atrophy (SMA) Case |
| EPIC Display Name | Spinal Muscular Atrophy (SMA) Molecular Detection |
| Allscripts (AEHR) Order Name | Spinal Muscular Atrophy |
| Sunrise Clinical Manager (SCM) Order Name | Spinal Muscular Atrophy |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results | |
| Clinical Info |
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of the Survival Motor Neuron gene 1 SMN1 gene function, it is the primary genetic cause of infant death. Affected individuals experience progressive muscle weakness due to degeneration of the lower motor neurons. SMA has an incidence of 1/10,000 live births and a carrier state of 1/50. |
| Specimen Type |
Blood |
| Container |
Lavender Top Tube |
| Collection Instructions |
Container/Tube: 1 Lavender-top (EDTA) tubes Specimen: 1-3 mL of peripheral blood collected in EDTA tube Transport Temperature: Room Temperature Collection Instructions: Note: Documented patient consent form required* * Options for documenting patient consent: (1) the electronic Consent Form in the electronic medical record (EMR), (2) the Genetic Consent form available for download in the laboratory test order section of the EMR, or (3) the Patient Consent section of the paper "Northwell Genetic Screening Tests" requisition. . |
| Transport Instructions |
Room Temperature |
| Specimen Stability |
Specimens are stable for a week refrigerated. |
| Methodology |
Polymerase chain reaction (PCR) and Capillary Electrophoresis |
| Days Performed |
Monday through Friday TAT: 8 Calendar days |
| Performing Laboratory |
Northwell Health Laboratories - Manhasset |
| CPT |
81329 |
| PDM |
5910160 |
Desired Epic Build Spinal Muscular Atrophy (SMA) Molecular Detection
| Cerner Primary Mnemonic: | HLX Spinal Muscular Atrophy (SMA) Case |
| PDM | 5910160 |
| Informatics - Workgroup | Molpath inhouse |
| Synonyms * | SMN1 SMN2 |
| Display Name * | Spinal Muscular Atrophy (SMA) 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) | Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the loss of the Survival Motor Neuron gene 1 SMN1 gene function, it is the primary genetic cause of infant death. Affected individuals experience progressive muscle weakness due to degeneration of the lower motor neurons. SMA has an incidence of 1/10,000 live births and a carrier state of 1/50. |
| IP Orderable | Yes |
| OP Orderable | Yes |
|
AOEs * | |
| AP AOEs | |
| Special History | No |
| Build Comments | |
| Filter * | genetics |
| Procedure Category Change | |
| Cerner Results | |
Actual Epic build
| Procedure Id | 115611 | ||||||||||||||||||||||||
| Pdm | 5910160 | ||||||||||||||||||||||||
| Order Display Name | Spinal Muscular Atrophy (SMA) Molecular Detection | ||||||||||||||||||||||||
| Procedure Name | SPINAL MUSCULAR ATROPHY | ||||||||||||||||||||||||
| Procedure Master Number | LAB11648 | ||||||||||||||||||||||||
| Short Procedure Name | SPINAL MUSCULAR ATROPHY | ||||||||||||||||||||||||
| Category Code | 15.0 | ||||||||||||||||||||||||
| Category Code Record Name | LAB CYTOGENETICS ORDERABLES | ||||||||||||||||||||||||
| Synonyms | SMN1 SMN2 | ||||||||||||||||||||||||
| Clinically Active | Yes | ||||||||||||||||||||||||
| Orderable | Yes | ||||||||||||||||||||||||
| Performable | Yes | ||||||||||||||||||||||||
| Filter Genomics | Generic Genomics Procedure | ||||||||||||||||||||||||
| Reference Link Url | https://labs.northwell.edu/epic/test/115611 | ||||||||||||||||||||||||
| Ordering Instructions | |||||||||||||||||||||||||
| Default Specimen Type | Blood | ||||||||||||||||||||||||
| Specimen Type Pick List | Blood | ||||||||||||||||||||||||
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| Specimen Source Pick List | Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous | ||||||||||||||||||||||||
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| Ip Lab Test Components For Report | INTERP | ||||||||||||||||||||||||
| Op Lab Test Components For Report | INTERP | ||||||||||||||||||||||||
| Order Questions | ["3045300170", "3045300171", "3045300173"] | ||||||||||||||||||||||||
| Order Questions Record Name | NH IP HOME COLLECT DATE NH IP HOME COLLECT DAYS NH IP HOME COLLECT MEDICALLY NECESSARY | ||||||||||||||||||||||||
| Inpatient Order Questions | ["3048500000"] | ||||||||||||||||||||||||
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| Order Specific Question Override | Yes | ||||||||||||||||||||||||
| Inpatient Question Override | |||||||||||||||||||||||||
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| 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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| Ip Orderable | 1 | ||||||||||||||||||||||||
| Op Orderable | 1 | ||||||||||||||||||||||||
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