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Hemochromatosis (HFE) Mutation Molecular Detection Epic Compendium

▶ Desired Epic Build * = editable field

Cerner Primary Mnemonic:

HLX HEMOCHROMATOSIS CASE

PDM

5160990

Informatics - Workgroup

Molpath inhouse

Synonyms *

HFE gene, Hereditary hemochromatosis, iorn overload, C282Y and H63D
C282Y
HFE GENE
HEREDITARY HEMOCHROMATOSIS
H63D

Display Name *

Hemochromatosis (HFE) Mutation Molecular Detection

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)

Hereditary Hemochromatosis (HH) is one of the most common genetic disorders, found most often in people of Northern European descent. It is a disorder of iron metabolism, characterized by inappropriately high absorption of iron by the gastrointestinal mucosa. Clinical HH is characterized by excessive storage of iron in several organs of the body including the liver, pancreas, endocrine glands, heart, skin, joints, testes, and intestinal lining. The buildup of iron in these organs can lead to hepatomegaly, hepatic cirrhosis, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, hypogonadism, arthritis (especially involving the metacarpophalangeal joints) and progressive increase in skin pigmentation. The prevalence of HH varies from 1 per 200-400 individuals in Caucasian population, to 1 per 220-250 in populations of Nordic or Celtic ancestry. The pattern of inheritance is recessive autosomal.

IP Orderable (inpatient)

Yes

OP Orderable (outpatient)

Yes

AOEs *

AOE PDM	AOE Display	AOE Description	Prompt
AOE00814	Patient Consent	Patient ConsentPatient Consent	X

AP AOEs

Special History

Build Comments

Filter *

genetics

Cerner Site Restrict

Cerner Results

Actual Epic Build 12/05/2025

PROCEDURE ID

64733

PDM

5160990

ORDER DISPLAY NAME

Hemochromatosis (HFE) Mutation Molecular Detection

PROCEDURE NAME

HEMOCHROMATOSIS MUTATION

PROCEDURE MASTER NUMBER

LAB833

SHORT PROCEDURE NAME

HEMOCHROMATOSIS MUTATION

CATEGORY CODE

21.0

CATEGORY CODE RECORD NAME

LAB MOLECULAR DIAGNOSTICS ORDERABLES

SYNONYMS

HFE GENE, HEREDITARY HEMOCHROMATOSIS, IORN OVERLOAD, C282Y AND H63D
C282Y
HFE GENE
HEREDITARY HEMOCHROMATOSIS
H63D

CLINICALLY ACTIVE

Yes

ORDERABLE

Yes

PERFORMABLE

Yes

FILTER GENOMICS

Generic Genomics Procedure

REFERENCE LINK URL

https://labs.northwell.edu/epic/test/64733

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

Blood, Venous
Blood, Central Line
Blood, Arterial
Blood, Capillary

OP SPECIMEN SOURCE LIST

IP LAB TEST COMPONENTS FOR REPORT

HLXHFEFR

OP LAB TEST COMPONENTS FOR REPORT

HLXHFEFR

ORDER QUESTIONS

["3045300170", "3045300171", "3045300173", "3046700000"]

ORDER QUESTIONS RECORD NAME

NH IP HOME COLLECT DATE
NH IP HOME COLLECT DAYS
NH IP HOME COLLECT MEDICALLY NECESSARY
NH IP LAB PATIENT CONSENT?

INPATIENT ORDER QUESTIONS

["3046700000"]

INPATIENT ORDER QUESTIONS RECORD NAME

NH IP LAB PATIENT CONSENT?

ORDER SPECIFIC QUESTION OVERRIDE

Yes

INPATIENT QUESTION OVERRIDE

Yes

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 ID	Question Name	Question	Response Type	Response List	Require 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
3046700000	NH IP LAB PATIENT CONSENT?	Patient consent?	Yes/No		Yes

EPIC IP AOEs

Question ID	Question Name	Question	Response Type	Response List	Require Response
3046700000	NH IP LAB PATIENT CONSENT?	Patient consent?	Yes/No		Yes

EPIC Components (results - crosswalked through Cerner)

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Hemochromatosis (HFE) Mutation Molecular Detection Epic Compendium

▶ Desired Epic Build * = editable field

Actual Epic Build 12/05/2025 Save Test to CSV

Epic Build / Desired Build Test Compendium
Welcome to the new Northwell Health Labs Epic Build / Desired Build Test Directory! Please email ClinicalLabInformatics@northwell.edu with any typos, corrections or issues.

Actual Epic Build 12/05/2025