Hemochromatosis (HFE) Mutation Molecular Detection
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
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| 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 * | |
| AP AOEs | |
| Special History | No |
| Build Comments | |
| Filter * | genetics |
| Cerner Site Restrict | |
| Cerner Results | |
Actual Epic Build 3/11/2025
| 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 |
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| 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 |
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| SPECIMEN SOURCE DEFAULT - MALE | Blood, Venous | ||||||||||||||||||||||||
| SPECIMEN SOURCE DEFAULT - FEMALE | Blood, Venous | ||||||||||||||||||||||||
| SPECIMEN SOURCE LIST | Blood, Venous Blood, Central Line Blood, Arterial Blood, Capillary |
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| OP SPECIMEN SOURCE LIST | |||||||||||||||||||||||||
| IP LAB TEST COMPONENTS FOR REPORT | HLXHFEFR | ||||||||||||||||||||||||
| OP LAB TEST COMPONENTS FOR REPORT | HLXHFEFR | ||||||||||||||||||||||||
| 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 |
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| 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
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EPIC IP AOEs
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| EPIC Components (results - crosswalked through Cerner) | |||||||||||||||||||||||||