Hemochromatosis Mutation Analysis (S65C, C282Y and H63D)


Sunquest Code:HHMDCoPath Code:HHPCR
Epic Code:LAB4005Epic Name:Hemochromatosis Mutation
Synonyms:Molecular; HFE Gene
Methodology:Amplification of DNA with restriction digest
CPT Code:----------CPTCODES HERE----------
Turnaround Time:Results are reported within 7-10 days.
Special Instructions:Include patient history relating to hemochromatosis. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. Bone Marrow Transplant Patients; If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:2 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Causes for Rejection:Specimen more than 5 days old, or frozen or clotted specimen, incorrect anticoagulant. Patients are only tested ONCE; if duplicate sample is collected, testing is canceled, credited and original results and collection date reported. Contact 612-273-8445 with questions.
Shared samples will not be accepted unless sent to Molecular first. Contamination will occur on automated hematology analyzers.  DNA extracted at non-CLIA certified (or equivalent) lab.


Processing and Shipping

Specimen Processing:Do not process whole blood. Store at room temperature.
Shipping Instructions:Ship whole blood at room temperature.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:An interpretation is provided with each report. Determination of homozygosity (affected patients) and heterozygosity (carriers) of the C282Y, S65C, and H63D mutations is reported.
Use:Detection of the C282Y, S65C and H63D mutations in the HFE gene, associated with some forms of hereditary hemochromatosis.


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