Test Id : FET
Iron, Liver Tissue
Useful For
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of hemochromatosis using liver tissue specimens
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Hereditary Hemochromatosis Algorithm.
Method Name
A short description of the method used to perform the test
Inductively Coupled Plasma Mass Spectrometry (ICP-MS)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Fe (Iron)
Hemochromatosis
Hepatic Iron Concentration
Hepatic Iron Index
Iron (Fe)
Iron, Tissue Liver
Metals, Tissue
Quantitative Iron
Total Iron, Liver Tissue
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Hereditary Hemochromatosis Algorithm.
Specimen Type
Describes the specimen type validated for testing
Liver Tissue
Necessary Information
Patient's date of birth is required to calculate iron index.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Supplies: Metal Free Specimen Vial (T173)
Container/Tube:
Preferred: Mayo metal-free specimen vial
Acceptable: Paraffin block, with no more than 1 or 2 cuts previously made
Specimen Volume: 2 mg
Collection Instructions: Two mg of liver tissue are required. This is typically a piece of tissue from a 22-gauge needle biopsy at least 2 cm long. If an 18-gauge needle is used, the tissue must be at least 1 cm in length.
Specimen Stability Information:
Fresh or formalin-fixed liver tissue specimens: Frozen (-30 to -10 degrees C) at least 20 years
Paraffin-embedded (block) liver tissue specimens: Ambient (16 to 24 degrees C) at least 12 1/2 years
Additional Information: Paraffin blocks will be returned 7 days after analysis is complete.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Needle biopsy: See Specimen Required; 2 mm x 2 mm (punch): 0.3 mg by dry weight
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability. |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Liver Tissue | Refrigerated (preferred) | ||
Ambient | |||
Frozen |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Diagnosis of hemochromatosis using liver tissue specimens
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Hereditary Hemochromatosis Algorithm.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Hemosiderosis is the condition of excessive iron accumulation in tissues. Liver is the first organ affected in iron-overload diseases. Transient increases in iron first appear in Kupffer cells. This finding is commonly related to sideroblastic anemia, excessive iron consumption, or chronic alcohol ingestion. Persistent hemosiderosis, as seen in hemochromatosis, causes iron accumulation in hepatocytes and is usually concentrated in biliary cells.
Hereditary hemochromatosis is an autosomal recessive disease with estimated prevalence of 2 in 1000 in White population, with lower incidence in other races. The gene responsible for hereditary hemochromatosis (HFE) is located on chromosome 6; the majority of patients with hereditary hemochromatosis have variants in the HFE gene. Hereditary hemochromatosis is characterized by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues that typically begins to be expressed in the third to fifth decades of life but may occur in children. The most common presentation is hepatic cirrhosis in combination with hypopituitarism, cardiomyopathy, diabetes, arthritis, or hyperpigmentation. Because of the severe sequelae of this disease, if left untreated and recognizing that treatment is relatively simple, early diagnosis before signs or symptoms appear is important.
Screening for hemochromatosis is best done by measuring serum iron and transferrin saturation (FEC / Iron and Total Iron-Binding Capacity, Serum). If the serum iron concentration is above 175 mcg/dL and the transferrin saturation is above 55%, analysis of serum ferritin concentration (FERR1 / Ferritin, Serum) is indicated. A ferritin concentration above 400 ng/mL is suggestive of hemochromatosis but also can indicate other forms of hepatocyte injury, such as alcoholic or viral hepatitis, or other inflammatory disorders involving the liver. HFE analysis (HFET / Hereditary Hemochromatosis, HFE Variant Analysis, Varies) may be used to confirm the clinical diagnosis of hemochromatosis, to diagnose hemochromatosis in asymptomatic individuals with blood tests showing increased iron stores, or for predictive testing of individuals who have a family history of hemochromatosis. The alleles evaluated by HFE gene analysis are evident in approximately 80% of patients with hemochromatosis; a negative report for HFE gene does not rule-out hemochromatosis. In a patient with negative HFE gene testing, elevated iron status for no other obvious reason, and family history of liver disease, additional evaluation of liver iron concentration is indicated.
Diagnosis of hemochromatosis may also be based on biochemical analysis and histologic examination of a liver biopsy. In this assay, results are reported as the hepatic iron index (HII) and dry weight of iron. The HII is considered the "gold standard" for diagnosis of hemochromatosis. This test is appropriate when:
-Serum iron is above 160 mcg/dL
-Transferrin saturation is above 55%
-Ferritin is above 400 ng/mL in male patients or above 200 ng/mL in female patients
-HFE gene test is negative for HFE variants
For more information see Hereditary Hemochromatosis Algorithm.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
Iron
Males: 200-2,400 mcg/g dry weight
Females: 200-1,800 mcg/g dry weight
Iron Index
> or =13 years: <1.0 mcmol/g/year
Reference values have not been established for patients that are younger than 13 years.
Interpretation
Provides information to assist in interpretation of the test results
A hepatic iron concentration above 10,000 mcg/g dry weight is diagnostic for hemochromatosis.
Hepatic iron concentrations above 3000 mcg/g are seen when there is iron overload without cellular injury and cirrhosis. Hepatic iron concentrations greater than the reference range are associated with hemosiderosis, thalassemia, and sideroblastic anemia. Some patients with hepatitis or cirrhosis without significant fibrosis will have hepatic iron concentrations at the top end of normal or just slightly above the normal range.
Iron accumulates in the liver normally with aging. The hepatic iron index (HII) normalizes hepatic iron concentration for age. The HII is calculated from the hepatic iron concentration by converting the concentration from mcg/g to mcmol/g dry weight and dividing by years of age. The normal range for HII is less than 1.0.
-Patients with homozygous hemochromatosis have an HII above 1.9.
-Patients with heterozygous hemochromatosis often have an HII ranging from 1.0 to 1.9.
-Patients with hepatitis and alcoholic cirrhosis usually have an HII below 1.0, although a small percentage of patients with alcoholic cirrhosis have an HII in the range of 1.0 to 1.9.
-Patients with hemochromatosis who have been successfully treated with phlebotomy will have an HII below 1.0.
Liver specimens collected from patients with cirrhosis containing a high degree of fibrosis have results near the low end of the reference range, even though they will show significant iron staining in hepatocytes. While it is true that iron accumulates in hepatocytes in advanced alcoholic cirrhosis with fibrosis, there are relatively few hepatocytes compared to other inert (fibrotic) tissue, so the quantitative iron determination, which is expressed as microgram of iron per gram of dry weight tissues, yields a low result. Histologic examination of all tissue specimens should be performed to facilitate correct interpretation. When structural heterogeneity is apparent histologically, variation in measured iron should be anticipated. In approximately 2% of cases, a high degree of hepatic heterogeneity has been observed that makes quantitation highly variable.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Formalin-fixed, paraffin-embedded tissue can be used when histologic examination (including iron stains) is requested in addition to the hepatic iron concentration and calculated hepatic iron index; however, fresh or frozen tissue is preferred.
Paraffin blocks from which many slides have been previously cut often appear to contain sufficient quantity of tissue, however, the specimen is often very thin and less than 2 mg in weight.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Brandhagen DJ, Fairbanks VF, Baldus W. Recognition and management of hereditary hemochromatosis. Am Fam Physician. 2002;65:853-860, 865-866
2. Summers KM, Halliday JW, Powell LW. Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index. Hepatology. 1990;12:20-25
3. Ludwig J, Batts KP, Moyer TP, et al. Liver biopsy diagnosis of homozygous hemochromatosis: a diagnostic algorithm. Mayo Clin Proc. 1993;68:263-267
4. Pietrangelo A. Hemochromatosis: an endocrine liver disease. Hepatology. 2007;46:1291-1301
5. Ashley EA, Butte AJ, Wheeler MT, et al. Clinical assessment incorporating a personal genome. Lancet. 2010;375:1525-1535
6. McLaren CE, Barton JC, Eckfeldt JH, et al. Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study. Am J Hematol. 2010;85:101-105
7. Radford-Smith DE, Powell EE, Powell LW. Haemochromatosis: a clinical update for the practising physician. Intern Med J. 2018;48(5):509-516. doi:10.1111/imj.13784
Method Description
Describes how the test is performed and provides a method-specific reference
The metal of interest is analyzed by inductively coupled plasma mass spectrometry.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday, Thursday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
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Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
83540
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
FET | Iron, Liver Ts | 57028-3 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
8350 | Iron, Liver Ts | 57028-3 |
7770 | Hepatic Iron Index | 49061-5 |