| Synonyms |
HFE; Molecular Testing; Hemochromatosis |
| SPECIMEN REQUIREMENTS |
|
| Container Type |
Lavender top tube (EDTA) |
| Specimen Type |
Whole blood |
| Preferred Volume |
5 mL |
| Minimum Volume |
1 mL or a full EDTA microtainer |
| Specimen Processing |
Store and transport at room temperature. If delayed more than 72 hours, store and transport refrigerated. |
| Stability |
Room Temp 72 hours Refrigerated 5 days Frozen (-20°C) Unstable |
| Unacceptable Conditions |
Serum, heparinized whole blood, frozen whole blood, severely hemolyzed specimens, specimens in leaky containers or over 5 days old. Also specimens not received in the original collection tubes. |
| Alternate Specimens |
ACD whole blood or sodium citrated whole blood (yellow or blue top tube). |
| Limitations |
Do not freeze. |
| Department |
Molecular Diagnostics |
| Reference Laboratory |
SHMC |
| CPT Codes |
83891, 83901, 83912, 83909, 83900 |
| Test Schedule |
Mon, Wed, Fri |
| Turnaround Time |
2-9 days |
| Method |
PCR |
| Test Includes |
Hereditary Hemochromatosis Result; Genotype; Interpretation; Comment. |
| Reference Ranges |
Hereditary Hemochromatosis Result
Genotype
Interpretation
Patients receiving genetic testing
should consider genetic counseling.
Counseling of potentially affected
family members may also be warranted.
Comment
Patient DNA is assayed for the C282Y,
H63D and S65C point mutations in the
HFE gene by polymerase chain reaction
(PCR). |
| Notes |
Test includes detection of C282Y, H63D, and S65C mutations. |
:: Interface Codes ::
| type | order code | test description | result code | result description | units | decimal places | loinc code |
| o | 83999.Z10 | Hereditary Hemochromatosis |
| r | 83999.Z10 | Hereditary Hemochromatosis | 84999.Z409 | Result | | | 21694-5 |
| r | 83999.Z10 | Hereditary Hemochromatosis | 84999.Z410 | Genotype | | | 21694-5 |
| r | 83999.Z10 | Hereditary Hemochromatosis | 84999.Z411 | Interpretation | | | 21694-5 |
| r | 83999.Z10 | Hereditary Hemochromatosis | 84999.Z412 | Comment | | | 21694-5 |
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