Hemochromatosis (HFE) Mutation Molecular Detection
Test Catalog Information
| Test Catalog Synonyms | |
| EPIC Synonyms |
HFE gene, Hereditary hemochromatosis, iorn overload, C282Y and H63D C282Y HFE GENE HEREDITARY HEMOCHROMATOSIS H63D |
| Cerner Primary Mnemonic | HLX HEMOCHROMATOSIS CASE |
| EPIC Display Name | Hemochromatosis (HFE) Mutation Molecular Detection |
| Allscripts (AEHR) Order Name | Hemochromatosis Gene Mutation |
| Sunrise Clinical Manager (SCM) Order Name | Hemochromatosis Gene Mutation |
| EPIC Inpatient Orderable | Yes |
| EPIC Outpatient Orderable | Yes |
| Cerner Results | |
| Clinical Info |
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. |
| Specimen Type |
Blood |
| Container |
Lavender Top Tube |
| Collection Instructions |
Container/Tube: Lavender top (EDTA) Specimen Volume: 1-3 mL of peripheral blood Transport Temperature: Room Temperature Note: Pertinent medical information including patient’s age, suspected diagnosis and a signed “Patient Consent Form” are required on request form for processing. |
| Transport Instructions |
Room Temperature |
| Specimen Stability |
Specimens are stable for a week refrigerated. |
| Methodology |
Real Time PCR Samples are analyzed for the hereditary hemochromatosis (HH) mutation C282Y, and H63D in the HFE gene. |
| Days Performed |
Monday through Friday TAT: 8 Calendar days |
| Performing Laboratory |
Northwell Health Laboratories |
| CPT |
81256 |
| PDM |
5160990 |
Desired Epic Build Hemochromatosis (HFE) Mutation Molecular Detection
| 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 |
| Order Entry Specimen Sources * | |
| Order Entry Specimen Types |
Blood
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| 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 | Yes |
| OP Orderable | Yes |
|
AOEs * | |
| AP AOEs | |
| Special History | No |
| Build Comments | |
| Filter * | genetics |
| Procedure Category Change | |
| Cerner Results | |
Current Actual EPIC Build as of 10/28/2024
| 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 | ||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||
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| 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 | ||||||||||||||||||||||||
| Inpatient Order Questions | ["3048500000"] | ||||||||||||||||||||||||
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| Order Specific Question Override | Yes | ||||||||||||||||||||||||
| Inpatient Question Override | |||||||||||||||||||||||||
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| Edp Amb Order Specific Questions Record Name | NH IP PATIENT COMPLETED CONSENT | ||||||||||||||||||||||||
| Edp Ip Order Specific Questions Record Name | NH IP PATIENT COMPLETED CONSENT | ||||||||||||||||||||||||
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| Ip Orderable | 1 | ||||||||||||||||||||||||
| Op Orderable | 1 | ||||||||||||||||||||||||
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