Hereditary Hemochromatosis, DNA Analysis

CPT: 81256
Updated on 01/29/2023
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Synonyms

  • Cirrhosis
  • Iron Overload
  • Iron Storage

Expected Turnaround Time

5 - 7 days


Related Documents


Specimen Requirements


Specimen

Whole blood or Labcorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

Whole blood or Labcorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

Whole blood or Labcorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

Whole blood or Labcorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

Whole blood or Labcorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)


Volume

7 mL whole blood or Labcorp buccal swab kit

7 mL whole blood or Labcorp buccal swab kit

7 mL whole blood or Labcorp buccal swab kit

7 mL whole blood or Labcorp buccal swab kit

7 mL whole blood or Labcorp buccal swab kit


Minimum Volume

3 mL whole blood or two buccal swabs


Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Labcorp buccal swab kit

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Labcorp buccal swab kit

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Labcorp buccal swab kit

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Labcorp buccal swab kit

Lavender-top (EDTA) tube, yellow-top (ACD) tube, or Labcorp buccal swab kit


Storage Instructions

Maintain specimen at room temperature or refrigerate.


Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab


Test Details


Use

Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene.

Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene.

Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene.

Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene.

Aids in the identification of individuals at risk for symptoms of hemochromatosis due to variants in the HFE gene.


Limitations

Results should be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Results should be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Results should be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Results should be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Results should be combined with clinical information for the most accurate interpretation. Molecular-based testing is highly accurate, but as in any laboratory test, rare diagnostic errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Three variants are analyzed: c.845G>A (p.Cys282Tyr), commonly referred to as C282Y; c.187C>G (p.His63Asp), commonly referred to as H63D; c.193A>T (p.Ser65Cys), commonly referred to as S65C. DNA Analysis of the HFE gene (NM_000410.4) is performed by PCR amplification followed by restriction enzyme digestion analyses.

Three variants are analyzed: c.845G>A (p.Cys282Tyr), commonly referred to as C282Y; c.187C>G (p.His63Asp), commonly referred to as H63D; c.193A>T (p.Ser65Cys), commonly referred to as S65C. DNA Analysis of the HFE gene (NM_000410.4) is performed by PCR amplification followed by restriction enzyme digestion analyses.

Three variants are analyzed: c.845G>A (p.Cys282Tyr), commonly referred to as C282Y; c.187C>G (p.His63Asp), commonly referred to as H63D; c.193A>T (p.Ser65Cys), commonly referred to as S65C. DNA Analysis of the HFE gene (NM_000410.4) is performed by PCR amplification followed by restriction enzyme digestion analyses.

Three variants are analyzed: c.845G>A (p.Cys282Tyr), commonly referred to as C282Y; c.187C>G (p.His63Asp), commonly referred to as H63D; c.193A>T (p.Ser65Cys), commonly referred to as S65C. DNA Analysis of the HFE gene (NM_000410.4) is performed by PCR amplification followed by restriction enzyme digestion analyses.

Three variants are analyzed: c.845G>A (p.Cys282Tyr), commonly referred to as C282Y; c.187C>G (p.His63Asp), commonly referred to as H63D; c.193A>T (p.Ser65Cys), commonly referred to as S65C. DNA Analysis of the HFE gene (NM_000410.4) is performed by PCR amplification followed by restriction enzyme digestion analyses.


Additional Information

Hereditary hemochromatosis (HFE related) is an autosomal recessive iron storage disorder. Patients may have a genetic diagnosis of hereditary hemochromatosis and never show clinical symptoms. Clinical symptoms typically appear between 40 to 60 years in males and after menopause in females. Signs and symptoms may include organ damage, primarily in the liver, risk for hepatocellular carcinoma, diabetes, and heart disease due to iron accumulation. Life expectancy may be decreased in individuals who develop cirrhosis. Treatment for clinically symptomatic individuals may include therapeutic phlebotomy. Liver transplant may be used to treat end stage liver failure. For preventive care, monitoring for iron overload is recommended for patients who are homozygous for c.845G>A (p.Cys282Tyr) and have yet to experience clinical symptoms. The most common HFE variants associated with hereditary hemochromatosis are c.845G>A (p. Cys282Tyr), c.187C>G (p.His63Asp), c.193A>T (p. Ser65Cys). While patients homozygous for c.845G>A (p.Cys282Tyr) are the most likely to present clinical symptoms, less than 10% develop clinically significant iron overload with tissue and organ damage. Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.


References

Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-343.21452290
Porto G, Brissot P, Swinkels DW, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet. 2016 Apr;24(4):479-495.26153218
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-343.21452290
Porto G, Brissot P, Swinkels DW, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet. 2016 Apr;24(4):479-495.26153218
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-343.21452290
Porto G, Brissot P, Swinkels DW, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet. 2016 Apr;24(4):479-495.26153218
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-343.21452290
Porto G, Brissot P, Swinkels DW, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet. 2016 Apr;24(4):479-495.26153218
Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011 Jul;54(1):328-343.21452290
Porto G, Brissot P, Swinkels DW, et al. EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). Eur J Hum Genet. 2016 Apr;24(4):479-495.26153218

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511345 Hered.Hemochromatosis, DNA 34519-9 511349 Hereditary Hemochromatosis 34519-9

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