Ordering Recommendation

Confirm clinical diagnosis of hereditary hemochromatosis (HH) in an individual with biochemical findings of iron overload. Screen adult family members of individuals with known HH. Test reproductive partner of an individual with HH for carrier status. Not recommended for initial hemochromatosis testing.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Frozen specimens in glass collection tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Methodology

Polymerase Chain Reaction (PCR) / Fluorescence Monitoring

Performed

Sun-Sat

Reported

2-7 days

Reference Interval

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

This test is not recommended for asymptomatic patients under 18 years of age.

Hotline History

N/A

CPT Codes

81256

Components

Component Test Code* Component Chart Name LOINC
3019330 HFEPCR Specimen 31208-2
3019331 C282Y Hemochromatosis Variant 21695-2
3019332 H63D Hemochromatosis Variant 21696-0
3019333 S65C Hemochromatosis Variant 38380-2
3019334 Hemochromatosis Interpretation 34519-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • HLA-H Gene
  • C282Y
  • H63D
  • HFE Gene
  • Hemochromatosis (HFE) Genotype
Hemochromatosis (HFE) 3 Variants