Hereditary Hemochromatosis, HFE Variant Analysis, Varies
Use
This test is useful for establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults. It is also used for testing individuals with increased serum transferrin-iron saturation and ferritin, as well as predictive testing of individuals who have a family history of HH, in conjunction with genetic counseling. The test is not recommended for population screening.
Special Instructions
Not provided.
Limitations
This assay tests only for the C282Y, H63D, and S65C variants (the latter only if part of the C282Y/S65C genotype), and will not detect all variants in the HFE gene. Therefore, a negative test result does not rule out hereditary hemochromatosis or other iron overload disorders. Rare variants and polymorphisms may lead to false-negative or false-positive results. The test is not recommended for population screening due to concerns about the penetrance of HFE variants.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
LOINC Codes
- 34519-9 - HFE gene Mut Anl Bld/T
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 31208-2 - Specimen source
- 85069-3 - Lab test method
Result Turnaround Time
6-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send specimen in original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |