Hemochromatosis Mutation Analysis (C282Y and H63D)
Abbrev Code: | HHMD | ||
Order Code: | LAB4005 | Order Name: | Hemochromatosis Mutation |
Synonyms: | Molecular; HFE Gene | ||
Methodology: | Amplification of DNA with restriction digest, detection by gel electrophoresis. | ||
CPT Codes: | 81256 x1, G0425 x1 | ||
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: |
Collection Instructions
Specimen: | Blood |
Optimal Volume: | 10 mL |
Minimum\Peds Volume: | 2 mL |
Container: | Yellow (ACD, Solution A) tube available from laboratory Alternate Containers: Orocollect Dx Buccal Swabs, Purple (EDTA), Yellow (ACD, Solution B) tube available from laboratory |
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 | UM Molecular Diagnostics (M) (UMMC East Bank) |
Interpretive
Reference Range: | An interpretation is provided with each report. Determination of homozygosity (affected patients) and heterozygosity (carriers) of the C282Y and H63D mutations is reported. |
Use: | Detection of the C282Y and H63D mutations in the HFE gene, associated with some forms of hereditary hemochromatosis. |
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