Hemochromatosis Mutation Analysis (C282Y and H63D)
| Sunquest Code: | HHMD | CoPath Code: | HHPCR |
| Epic Code: | LAB4005 | Epic Name: | Hemochromatosis Mutation |
| Synonyms: | Molecular; HFE Gene | ||
| Methodology: | SNP Genotyping of selected drug-metabolizing enzymes using Fluidigm BioMark HD and Life Technologies TaqMan® Reagents. | ||
| 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 (Orocollect Dx Buccal Swabs, 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 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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