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MTHFR Mutation Molecular Detection Epic Compendium  

Desired Epic Build * = editable field  

Cerner Primary Mnemonic: HLX MTHFR CASE
PDM 5160200
Informatics - WorkgroupMolpath inhouse
Synonyms *Hyperhomocysteinemia, MTHFR DNA assay
Methylenetetrahydrofolate reductase (MTHFR)
Display Name *MTHFR Mutation Molecular Detection
Specimen Sources (combined Order Entry and Specimen Navigator) *
Specimen Types (combined Order Entry and Specimen Navigator) *
Blood
Blood
Body Fluids (types sent through AOEs)
Specimen Navigator Specimen Types
Specimen Navigator Specimen Sources
Specimen Navigator Short Name
Ordering info (EPIC SmartText)Reduced levels of MTHFR activity led to elevated plasma concentrations of homocysteine, a condition referred to as hyperhomocysteinemia, a recognized risk factor for thrombophilia. Elevated plasma homocysteine has also been associated with an increased risk of cardiovascular disease and neural tube defects in fetuses of pregnant women.
IP Orderable (inpatient) Yes
OP Orderable (outpatient) Yes
AOEs *

AP AOEs

    
Special History No 
 
    
Build CommentsDUPLICATE

    
Filter *genetics

    
    
Cerner Site Restrict

    
Cerner Results


            


     





    Actual Epic Build 6/26/2025
    






                

        PROCEDURE ID
        115247
    

        

        PDM
        5160200
    

        

        ORDER DISPLAY NAME
        MTHFR Mutation Molecular Detection
    

        

        PROCEDURE NAME
        MOLECULAR GENETICS - MTHFR GENE
    

        

        PROCEDURE MASTER NUMBER
        LAB11455
    

        

        SHORT PROCEDURE NAME
        MOLECULAR GENETICS - MTHFR GENE
    

        

        CATEGORY CODE
        21.0
    

        

        CATEGORY CODE RECORD NAME
        LAB MOLECULAR DIAGNOSTICS ORDERABLES
    

        

        SYNONYMS
        HYPERHOMOCYSTEINEMIA, MTHFR DNA ASSAY
METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR)		
    

        

        CLINICALLY ACTIVE
        Yes
    

        

        ORDERABLE
        Yes
    

        

        PERFORMABLE
        Yes
    

        

        FILTER GENOMICS
        Generic Genomics Procedure
    

        

        REFERENCE LINK URL
        https://labs.northwell.edu/epic/test/115247
    

        

        ORDERING INSTRUCTIONS
        
Reduced levels of MTHFR activity led to elevated plasma concentrations of homocysteine, a condition referred to as hyperhomocysteinemia, a recognized risk factor for thrombophilia. Elevated plasma homocysteine has also been a
ssociated with an increased risk of cardiovascular disease and neural tube defects in fetuses of pregnant women.







    

        

        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
        HLXMTHFR
    

        

        OP LAB TEST COMPONENTS FOR REPORT
        HLXMTHFR
    

        

        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"]
    

        

        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
        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

                        

                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


                

            
Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response

                        

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

                    

            


    
EPIC Components (results - crosswalked through Cerner)