Test Overview
Test Methodology

Allelic Discrimination, Polymerase Chain Reaction (PCR)

Test Usage

Mutation detection in candidate gene for hereditary hemochromatosis.

Reference Range *

Interpretive report provided.

Test Limitations

This test will detect the C282Y and/or H63D variants. Other mutations in the HFE gene or other causes of hereditary hemochromatosis will not be detected. The results should be interpreted in conjunction with iron studies, family history and clinical findings. Full HFE gene sequencing and possibly deletion/duplication analysis may be considered if clinical suspicion of hereditary hemochromatosis remains high.

Test Details
Analytic Time

3 - 10 days

Soft Order Code
HHM
MiChart Code
Hemochromatosis mutation
Synonyms
  • Hereditary Hemochromatosis Genotype
  • Hemochromatosis Genotype
  • C282Y Mutation
  • H63D Mutation
  • Hemochromatosis Mutation Detection
  • Hereditary Hemochromatosis by DNA Analysis
  • HFE Mutation Detection
  • HLA-H Mutation Detection
  • HLA-HMU (HLA-H Mutation)
  • HHM
  • HLA H Mutation Detection
  • HERHEM
  • HERHEMS
  • H. Hemochromatosis Mutation
  • MLABEL
  • HER HEMOCHROM MUT DET BY DNA
Laboratory
Molecular Diagnostics
Section
Molecular Diagnostics
Specimen Requirements
Collection Instructions

Collect blood in a lavender top tube. Refrigerate and send intact blood or bone marrow specimen within 48 hours of collection.

Alternate Specimen
The preferred specimen is whole blood collected in EDTA (lavender top). However, ACD (yellow top) and heparin (green top) may also be accepted.
Contraindications
In the absence of specific information regarding advances in the knowledge of mutation characteristics for a particular disorder, the current literature indicates that genetic tests for inherited disease need only be conducted once per lifetime.
Normal Volume
6 mL EDTA (lavender) whole blood. Extracted DNA is also acceptable if extracted in a CLIA certified laboratory.
Additional Information

By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing
CPT Code
81256
Fee Code
21666
Pro Fee CPT
G0452-26
LOINC
21694-5
NY State Approved
No