HFE (Hemochromatosis)
Test Mnemonic
HEMDNA
CPT Codes
- 81256 - QTY (1)
LOINC ®
34519-9
Aliases
- Hemochromatosis C282Y, H63D,S65C
- Hemochromatosis DNA Probe
Includes
- C282Y Locus
- H63D Locus
- S65C Locus
Performing Laboratory
n/a
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 4 mL | Whole blood | EDTA (Lavender) | Ambient | Ambient |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 2 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | 48 hours |
| Refrigerated | 7 days |
| Frozen | Unacceptable |
Days Performed
2 days per week
Turnaround Time
7 days
Methodology
| Name | Description |
|---|---|
| Fluorescence Monitoring | |
| Real-Time Polymerase Chain Reaction (RT-PCR) |
Reference Range
Clinical Info
Evaluation of hereditary hemochromatosis. Approximately 85% of patients with hereditary hemochromatosis are homozygous for the C282Y mutation and approximately 4% are compound heterozygous for the C282Y and H63D mutations.