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Beta-Globin Complete Gene Sequencing (HBB)

Desired Epic Build * = editable field  

Cerner Primary Mnemonic: Beta-Globin Complete
PDM 5950969
Informatics - WorkgroupHematology
Synonyms *BETAGLOB
Beta thalassemia
Display Name *Beta-Globin Complete Gene Sequencing (HBB)
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) 1) To identify disease-causing mutations in individuals affected with beta-thalassemia. 2) To identify carriers in high-risk ethnic group or people with positive family history. 3) Prenatal diagnosis of beta-thalassemia.
IP Orderable (inpatient) Yes
OP Orderable (outpatient) Yes
AOEs *

AOE PDM AOE Display AOE Description Prompt
AOE000022 Ethnicity: Ethnicity: X
AOE00700 IND Indication: X
AOE00701 BGREFPHYS Referring Physician X
AOE00702 DRPHONE Dr's Phone Number X
AP AOEs

    
Special History No 
 
    
Build Comments

    
Filter *

    
    
Cerner Site RestrictAML/Quest Labs
ARUP Laboratories
ARUP Laboratory
BioReference Health LLC
Cohen Children General Peds at Mineola
Cohen Children's General Peds at Islandi
Counsyl Laboratory
EHS Mobile 1 Marcus POC
Eurofins_NTD Genetics
Executive Headquarters-2000 Marcus
Family Service League-92473
Forest Hills Hospital Laboratory
Gene DX Laboratory
Glen Cove Hospital Laboratory
Hofstra University POC
Huntington Hospital Laboratory
Illumina Laboratories
Jet Blue Terminal 5 POC
Jones Beach Theater
LIJ Valley Stream Hospital Laboratory
LabCorp
Lenox Health Greenwich Village
Lenox Hill Laboratory
Long Island Ducks POC
Long Island Jewish Med Ctr

Manhattan Eye
 Ear & Throat Hospital Lab
Mayo Medical Labs
Mid Suffolk Pediatrics-Mt Sinai-5975
NHPP Cohen's General Peds at Kew Gardens
NHPP Medical Oncology at Woodbury
Nassau County DOH POC
Natera Laboratory
North Shore University Laboratory
Northern Westchester Hospital Labs
Northshore Holiday House
Northwell Health Best Health Center
Northwell Health Direct-Special Events
Northwell He

    
Cerner Results


                

            

                Result Desc
                Result display
                Result PDM
            

                        

                Beta-Globin DNA Mutations
                BGDNAMUT
                5950969A
            

                        

                Indication:
                IND
                5160004
            

                    

            


     





    Actual Epic Build 3/11/2025
    






                

        PROCEDURE ID
        114368
    

        

        PDM
        5950969
    

        

        ORDER DISPLAY NAME
        Beta-Globin Complete Gene Sequencing (HBB)
    

        

        PROCEDURE NAME
        BETA-GLOBIN COMPLETE
    

        

        PROCEDURE MASTER NUMBER
        LAB10955
    

        

        SHORT PROCEDURE NAME
        BETA-GLOBIN COMPLETE
    

        

        CATEGORY CODE
        1.0
    

        

        CATEGORY CODE RECORD NAME
        LAB BLOOD ORDERABLES
    

        

        SYNONYMS
        BETAGLOB
BETA THALASSEMIA		
    

        

        CLINICALLY ACTIVE
        Yes
    

        

        ORDERABLE
        Yes
    

        

        PERFORMABLE
        Yes
    

        

        FILTER GENOMICS
        
    

        

        REFERENCE LINK URL
        https://labs.northwell.edu/epic/test/114368
    

        

        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
        BTHALASS
    

        

        OP LAB TEST COMPONENTS FOR REPORT
        BTHALASS
    

        

        ORDER QUESTIONS
        ["3048500036", "3046000024", "3046000022", "3046000021"]
    

        

        ORDER QUESTIONS RECORD NAME
        NH IP ETHNICITY CUSTOM LIST
NH IP IND
NH IP BGREFPHYS
NH IP DRPHONE		
    

        

        INPATIENT ORDER QUESTIONS
        ["3048500036", "3046000024", "3046000022", "3046000021"]
    

        

        INPATIENT ORDER QUESTIONS RECORD NAME
        NH IP ETHNICITY CUSTOM LIST
NH IP IND
NH IP BGREFPHYS
NH IP DRPHONE		
    

        

        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
        
    

        

        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

                        

                3046000021
                NH IP DRPHONE
                Dr's Phone Number
                Free Text
                
                No
            

                        

                3046000022
                NH IP BGREFPHYS
                Referring Physician
                Free Text
                
                No
            

                        

                3046000024
                NH IP IND
                Indication:
                Free Text
                
                No
            

                        

                3048500036
                NH IP ETHNICITY CUSTOM LIST
                
                
                
                
            

                    

            


    
EPIC IP AOEs


                

            
Question IDQuestion NameQuestionResponse TypeResponse ListRequire Response

                        

                3046000021
                NH IP DRPHONE
                Dr's Phone Number
                Free Text
                
                No
            

                        

                3046000022
                NH IP BGREFPHYS
                Referring Physician
                Free Text
                
                No
            

                        

                3046000024
                NH IP IND
                Indication:
                Free Text
                
                No
            

                        

                3048500036
                NH IP ETHNICITY CUSTOM LIST
                
                
                
                
            

                    

            


    
EPIC Components (results - crosswalked through Cerner)


                

            
Component IDComponent NameBase NameCommon NameExternal NameCerner Result PDM

                        

                3047801371.0
                BETA-THALASSEMIA
                BTHALASS
                BETA THALASSEMIA
                
                5950969A