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Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Analysis

Desired Epic Build * = editable field  

Cerner Primary Mnemonic: Cystic Fibrosis Full Gene Analysis Plus DEL/DUP
PDM 5922480
Informatics - WorkgroupMolecular-send outs
Synonyms *TESTING
CFCOM
Cystic Fibrosis CFTR Full Gene Analysis
Display Name *Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene 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)Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or pancreatitis) Identifying genetic variants in individuals where detection rates by targeted variant analysis are low or unknown for their ancestral background Identifying patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy
IP Orderable (inpatient) Yes
OP Orderable (outpatient) Yes
AOEs *

AP AOEs

    
Special History No 
 
    
Build Comments

    
Filter *genetics

    
    
Cerner Site RestrictAML/Quest Labs
Mayo Medical Labs

    
Cerner Results


                

            

                Result Desc
                Result display
                Result PDM
            

                        

                CFTRZ-Result
                CFTRZ-Res
                5922480B
            

                        

                CFTRZ-Interpretation
                CFTRZ-Int
                5922480C
            

                        

                CFTRZ-Result Summary
                CFTRZ-ResSum
                5922480A
            

                        

                CFTRZ-Specimen
                CFTRZ-Spec
                5922480E
            

                        

                CFTRZ-Additional Information
                CFTRZ-Add In
                5922480D
            

                        

                CFTRZ-Source
                CFTRZ-Source
                5922480F
            

                        

                CFTRN-Disclaimer
                CFTRN-Discla
                5922480M
            

                        

                CFTRN-Genes Analyzed
                CFTRN-Genes
                5922480L
            

                        

                CFTRZ-Released by
                CFTRZ-Rel by
                5922480G
            

                        

                CFTRN-TestDes
                CFTRN-Desc
                5922480H
            

                        

                CFTRN-Resources
                CFTRN-Resour
                5922480J
            

                        

                CFTRN-AddResult
                CFTRN-AddRes
                5922480I
            

                        

                CFTRN-Method
                CFTRN-Method
                5922480K
            

                    

            


     





    Actual Epic Build 3/11/2025
    






                

        PROCEDURE ID
        33401
    

        

        PDM
        5922480
    

        

        ORDER DISPLAY NAME
        Cystic fibrosis Complete Rare Variant Analysis, Entire Gene Sequence Gene Test
    

        

        PROCEDURE NAME
        CYSTIC FIBROSIS GENE TEST
    

        

        PROCEDURE MASTER NUMBER
        LAB542
    

        

        SHORT PROCEDURE NAME
        CYSTIC FYBROSIS PROF
    

        

        CATEGORY CODE
        1.0
    

        

        CATEGORY CODE RECORD NAME
        LAB BLOOD ORDERABLES
    

        

        SYNONYMS
        TESTING
CFCOM
CYSTIC FIBROSIS CFTR FULL GENE ANALYSIS		
    

        

        CLINICALLY ACTIVE
        Yes
    

        

        ORDERABLE
        Yes
    

        

        PERFORMABLE
        Yes
    

        

        FILTER GENOMICS
        Generic Genomics Procedure
    

        

        REFERENCE LINK URL
        https://labs.northwell.edu/epic/test/33401
    

        

        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
        CFTRZ
CRFTRN
CFTRNADDRES
CFTRNRESOURC
CFTRN		
    

        

        OP LAB TEST COMPONENTS FOR REPORT
        CFTRZ
CRFTRN
CFTRNADDRES
CFTRNRESOURC
CFTRN		
    

        

        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
        []
    

        

        INPATIENT ORDER QUESTIONS RECORD NAME
        
    

        

        ORDER SPECIFIC QUESTION OVERRIDE
        Yes
    

        

        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
        
    

        

        EDP IP ORDER SPECIFIC QUESTIONS RECORD NAME
        
    

        

        EDP IP SPECIMEN SOURCE
        Blood, Venous
Blood, Central Line
Blood, Arterial
Blood, Capillary		
    

        

        EDP OP SPECIMEN SOURCE
        
    

        

        EDP IP SPECIMEN TYPE
        Blood
    

        

        EDP OP SPECIMEN TYPE
        
    

        

        DERIVED EDP IP BUTTONS S
        Blood, Central Line
Blood, Arterial
Blood, Capillary
Blood, Venous		
    

        

        DERIVED EDP IP BUTTONS T
        Blood
    

        

        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

                        

                3045300170
                NH IP HOME COLLECT DATE
                Start Date
                Date
                
                Yes
            

                        

                3045300171
                NH IP HOME COLLECT DAYS
                Days
                Custom List
                Monday

Tuesday

Wednesday

Thursday

Friday

Saturday

Sunday		
                Yes
            

                        

                3045300173
                NH IP HOME COLLECT MEDICALLY NECESSARY
                Medically Necessary?
                Yes/No
                
                Yes
            

                    

            


    
EPIC IP AOEs


            


    
EPIC Components (results - crosswalked through Cerner)


                

            
Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM

                        

                3047801726.0
                CFTRZ-RESULT
                CFTRZ
                CFTRZ RESULT
                
                5922480B
            

                        

                3047801724.0
                CFTRZ-INTERPRETATION
                CFTRZ
                CFTRZ INTERPRETATION
                
                5922480C
            

                        

                3047801727.0
                CFTRZ-RESULT SUMMARY
                CFTRZ
                CFTRZ RESULT SUMMARY
                
                5922480A
            

                        

                3047801729.0
                CFTRZ-SPECIMEN
                CFTRZ
                CFTRZ SPECIMEN
                
                5922480E
            

                        

                3047801723.0
                CFTRZ-ADDITIONAL INFORMATION
                CFTRZ
                CFTRZ ADDITIONAL INFORMATION
                
                5922480D
            

                        

                3047801728.0
                CFTRZ-SOURCE
                CFTRZ
                CFTRZ SOURCE
                
                5922480F
            

                        

                3047806032.0
                CFTRN-DISCLA
                CFTRN
                CFTRN DISCLA
                
                5922480M
            

                        

                3047806642.0
                CFTRN-GENES
                CRFTRN
                CFTRN GENES
                
                5922480L
            

                        

                3047801725.0
                CFTRZ-RELEASED BY
                CFTRZ
                CFTRZ RELEASED BY
                
                5922480G
            

                        

                3047806641.0
                CFTRN-TESTDES
                CRFTRN
                CFTRN TESTDES
                
                5922480H
            

                        

                3047808251.0
                CFTRN-RESOURCES
                CFTRNRESOURC
                CFTRN RESOURCES
                CFTRN Resources
                5922480J
            

                        

                3047808250.0
                CFTRN-ADDRESULT
                CFTRNADDRES
                CFTRN ADDRESULT
                CFTRN Additional Resul
                5922480I
            

                        

                3047806412.0
                CFTRN-METHOD
                CFTRN
                CFTRN METHOD
                
                5922480K