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Alpha-1 Antitrypsin Deficiency, Common Mutation Analysis

Desired Epic Build * = editable field  

Cerner Primary Mnemonic: Alpha-1 Antitrypsin Mutation
PDM 5901830
Informatics - WorkgroupMolecular-send outs
Synonyms *AATMUT
Alpha-1 Antitrypsin Mutation
Alpha-1 Antitrypsin Genotype
Display Name *Alpha-1 Antitrypsin Deficiency, Common Mutation 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)DNA-based determination of the two common alleles underlying α1-antitrypsin deficiency associated with chronic obstructive pulmonary disease (COPD) and childhood-onset liver disease. Prenatal testing is available.
Limitations  Tests for the two most common mutations, S and Z. Rare alleles, null or otherwise, are not detected by this assay.
IP Orderable (inpatient) Yes
OP Orderable (outpatient) Yes
AOEs *

AP AOEs

    
Special History No 
 
    
Build Comments

    
Filter *genetics

    
    
Cerner Site RestrictGenpath
LabCorp
Mayo Medical Labs
Northwell Health Laboratories

    
Cerner Results


                

            

                Result Desc
                Result display
                Result PDM
            

                        

                Alpha-1 Antitrypsin Mutation
                AATMUT
                5901830
            

                        

                Electronic Signature
                BRL ES
                5908905H
            

                        

                Additional Information
                PDGFRBAI
                1759247I
            

                    

            


     





    Actual Epic Build 3/11/2025
    






                

        PROCEDURE ID
        115417
    

        

        PDM
        5901830
    

        

        ORDER DISPLAY NAME
        Alpha-1 Antitrypsin Deficiency, DNA Analysis
    

        

        PROCEDURE NAME
        ALPHA-1 ANTITRYPSIN MUTATION
    

        

        PROCEDURE MASTER NUMBER
        LAB11551
    

        

        SHORT PROCEDURE NAME
        ALPHA-1 ANTITRYPSIN MUTATION
    

        

        CATEGORY CODE
        15.0
    

        

        CATEGORY CODE RECORD NAME
        LAB CYTOGENETICS ORDERABLES
    

        

        SYNONYMS
        AATMUT
ALPHA-1 ANTITRYPSIN MUTATION
ALPHA-1 ANTITRYPSIN GENOTYPE		
    

        

        CLINICALLY ACTIVE
        
    

        

        ORDERABLE
        
    

        

        PERFORMABLE
        
    

        

        FILTER GENOMICS
        Generic Genomics Procedure
    

        

        REFERENCE LINK URL
        https://labs.northwell.edu/epic/test/115417
    

        

        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
        A1ANTITRYPMU
ADDINFO
ELECTSIGNAT		
    

        

        OP LAB TEST COMPONENTS FOR REPORT
        A1ANTITRYPMU
ADDINFO
ELECTSIGNAT		
    

        

        ORDER QUESTIONS
        ["3048500036", "3048500037", "3045300089", "3048500000"]
    

        

        ORDER QUESTIONS RECORD NAME
        NH IP ETHNICITY CUSTOM LIST
NH IP RACE CUSTOM LIST
NH IP INDICATION FOR TEST (FREE TEXT)		
    

        

        INPATIENT ORDER QUESTIONS
        ["3048500036", "3048500037", "3045300089", "3048500000"]
    

        

        INPATIENT ORDER QUESTIONS RECORD NAME
        NH IP ETHNICITY CUSTOM LIST
NH IP RACE CUSTOM LIST
NH IP INDICATION FOR TEST (FREE TEXT)		
    

        

        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
        1
    

        

        OP ORDERABLE
        1
    

        

        STANDARD LAB COMPONENTS
        
    

        

        STANDARD LAB COMPONENTS RECORD NAME
        
    

        

        COMPONENT DATA REQUIREMENT
        
    

    
    
EPIC OP AOEs


                

            
Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response

                        

                3045300089
                NH IP INDICATION FOR TEST (FREE TEXT)
                Indication for test
                Free Text
                
                No
            

                        

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

                        

                3048500036
                NH IP ETHNICITY CUSTOM LIST
                
                
                
                
            

                        

                3048500037
                NH IP RACE CUSTOM LIST
                Race:
                Custom List
                African American

Asian

Native American

Hawaiin

Caucasian

Other

Unknown		
                No
            

                    

            


    
EPIC IP AOEs


                

            
Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response

                        

                3045300089
                NH IP INDICATION FOR TEST (FREE TEXT)
                Indication for test
                Free Text
                
                No
            

                        

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

                        

                3048500036
                NH IP ETHNICITY CUSTOM LIST
                
                
                
                
            

                        

                3048500037
                NH IP RACE CUSTOM LIST
                Race:
                Custom List
                African American

Asian

Native American

Hawaiin

Caucasian

Other

Unknown		
                No
            

                    

            


    
EPIC Components (results - crosswalked through Cerner)


                

            
Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM

                        

                3047800951.0
                ALPHA-1 ANTITRYPSIN MUTATION
                A1ANTITRYPMU
                ALPHA 1 ANTITRYPSIN MUTATION
                
                5901830
            

                        

                3047802292.0
                ELECTRONIC SIGNATURE
                ELECTSIGNAT
                ELECTRONIC SIGNATURE
                
                5908905H
            

                        

                3047800866.0
                ADDITIONAL INFORMATION
                ADDINFO
                ADDITIONAL INFORMATION
                
                1759247I