Hemochromatosis (HFE) 3 Mutations (Change effective as of 07/21/25: Refer to 3019007 in the July Hotline)
Also known as: HFE PCR
Use
Genetic testing to detect the three most common HFE gene variants—C282Y, H63D, and S65C—used to confirm hereditary hemochromatosis (HFE‑related) in individuals with biochemical evidence of iron overload or to screen at‑risk adult family members and reproductive partners. Not recommended for initial hemochromatosis testing.
Special Instructions
Change effective as of July 21, 2025: refer to test code 3019007 per the July Hotline. If practicing in New York State, informed consent is required.
Limitations
Only three HFE variants (C282Y, H63D, S65C) are tested; other rare or non‑HFE causes of hemochromatosis will not be detected. Should be interpreted alongside iron studies and clinical context. Not recommended for asymptomatic individuals under age 18.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
2-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Storage Instructions
Refrigerated
Causes for Rejection
Frozen specimens in glass collection tubes
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | 1 month |