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Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis

Desired Epic Build * = editable field  

Cerner Primary Mnemonic: Spinobulbar Musc Atrophy
PDM 1553718
Informatics - WorkgroupMolecular-send outs
Synonyms *SPINMUS
Display Name *Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis
Specimen Sources (combined Order Entry and Specimen Navigator) *
Specimen Types (combined Order Entry and Specimen Navigator) *
Blood
Body Fluids (types sent through AOEs)
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText)Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR) gene
IP Orderable (inpatient) No
OP Orderable (outpatient) No
AOEs *

AP AOEs

    
Special History No 
 
    
Build Comments

    
Filter *genetics

    
    
Cerner Site RestrictMayo Medical Labs

    
Cerner Results


                

            

                Result Desc
                Result display
                Result PDM
            

                        

                SMDA Released By
                SMDA Released By
                1553718C
            

                        

                SMDA Release Date
                SMDA Release Date
                1553718B
            

                        

                SMDA Result
                SMDA Result
                1553718B
            

                        

                SMDA Interp
                SMDA Interp
                1553718E
            

                        

                SMDA Source
                SMDA Source
                1553718I
            

                        

                SMDA Method
                SMDA Method
                1553718F
            

                        

                SMDA Amendment
                SMDA Amendment
                1553718D
            

                        

                Reason For Referral
                Reason For Referral
                1553718G
            

                        

                Specimen
                Specimen
                1553718K
            

                        

                SMDA Result Summary
                SMDA Result Summary
                1553718J
            

                        

                SMDA Order Date
                SMDA Order Date
                1553718H
            

                    

            


     





    Actual Epic Build 3/11/2025
    






                

        PROCEDURE ID
        115561
    

        

        PDM
        1553718
    

        

        ORDER DISPLAY NAME
        Spinobulbar Muscular Atrophy (SBMA) Expansion Analysis
    

        

        PROCEDURE NAME
        SPINOBULBAR MUSC ATROPHY
    

        

        PROCEDURE MASTER NUMBER
        LAB11623
    

        

        SHORT PROCEDURE NAME
        SPINOBULBAR MUSC ATROPHY
    

        

        CATEGORY CODE
        15.0
    

        

        CATEGORY CODE RECORD NAME
        LAB CYTOGENETICS ORDERABLES
    

        

        SYNONYMS
        SPINMUS
    

        

        CLINICALLY ACTIVE
        Yes
    

        

        ORDERABLE
        Yes
    

        

        PERFORMABLE
        Yes
    

        

        FILTER GENOMICS
        Generic Genomics Procedure
    

        

        REFERENCE LINK URL
        https://labs.northwell.edu/epic/test/115561
    

        

        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
    

        

        SPECIMEN SOURCE LIST
        
    

        

        OP SPECIMEN SOURCE LIST
        
    

        

        IP LAB TEST COMPONENTS FOR REPORT
        SMASPECID
SMA
SMDAINT
SMDAREAREF
SMDASPEC
SMAREVBY		
    

        

        OP LAB TEST COMPONENTS FOR REPORT
        SMASPECID
SMA
SMDAINT
SMDAREAREF
SMDASPEC
SMAREVBY		
    

        

        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
        
    

        

        OP ORDERABLE
        
    

        

        STANDARD LAB COMPONENTS
        
    

        

        STANDARD LAB COMPONENTS RECORD NAME
        
    

        

        COMPONENT DATA REQUIREMENT
        
    

    
    
EPIC OP AOEs


                

            
Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response

                        

                3048500000
                NH IP PATIENT COMPLETED CONSENT
                Patient completed consent?
                Yes/No
                
                Yes
            

                    

            


    
EPIC IP AOEs


                

            
Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response

                        

                3048500000
                NH IP PATIENT COMPLETED CONSENT
                Patient completed consent?
                Yes/No
                
                Yes
            

                    

            


    
EPIC Components (results - crosswalked through Cerner)


                

            
Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM

                        

                3047804746.0
                SMA REVIEWED BY
                SMAREVBY
                SMA REVIEWED BY
                
                1553718C
            

                        

                3047805797.0
                SMA RESULT
                SMA
                SMA RESULT
                
                1553718B
            

                        

                3047805797.0
                SMA RESULT
                SMA
                SMA RESULT
                
                1553718B
            

                        

                3047804750.0
                SMDA INTERP
                SMDAINT
                SMDA INTERP
                
                1553718E
            

                        

                3047804747.0
                SMA SOURCE
                SMASOURCE
                SMA SOURCE
                
                1553718I
            

                        

                3047804744.0
                SMA METHOD
                SMAMETH
                SMA METHOD
                
                1553718F
            

                        

                3047804743.0
                SMA AMENDMENT
                SMAAMEND
                SMA AMENDMENT
                
                1553718D
            

                        

                3047804751.0
                SMDA REASON FOR REFERRAL
                SMDAREAREF
                SMDA REASON FOR REFERRAL
                
                1553718G
            

                        

                3047804752.0
                SMDA SPECIMEN
                SMDASPEC
                SMDA SPECIMEN
                
                1553718K
            

                        

                3047804748.0
                SMA SPECIMEN ID
                SMASPECID
                SMA SPECIMEN ID
                
                1553718J
            

                        

                3047804745.0
                SMA ORDER DATE
                SMAORDDT
                SMA ORDER DATE
                
                1553718H