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Genetic test for hereditary hemochromatosis (HFE C282Y mutation screening)

Published: August 9, 2026Updated: August 16, 2026

This test checks for a specific gene mutation linked to iron overload disorders, which can cause health problems if untreated.

Quick summary

["A simple blood test to identify a genetic risk for iron buildup that may require monitoring or treatment."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
104288-6
Short code
HLA-B gene.g.31431780T>G Bld/T Ql
Synonyms
HLA-B gene.g.31431780T>G Bld/T Ql
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your doctor may recommend this test if you have a family history of iron overload disorders, symptoms like fatigue or joint pain, or if you have conditions like diabetes or liver disease that could be linked to excess iron.

What to Expect Before the Test

No special preparation is needed. You’ll have a small blood sample drawn from your arm, similar to other routine blood tests.

What the Results Mean

If the test finds the mutation, it means you carry the gene but may not yet have symptoms. If you have other risk factors (like high iron levels), your doctor may recommend further testing or monitoring.

Common Symptoms to Watch For

Iron overload can cause fatigue, joint pain, liver problems, or skin changes over time. Early detection helps manage risk with diet, supplements, or medical care.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

HFE C282Y Mutation Test

Frequently asked questions

Will this test show if I already have iron overload?
No, this test only checks for the gene mutation. Iron levels would need to be measured separately with a different test.
Can I get this test if I’m not at high risk?
While not routinely recommended for everyone, some doctors may offer it to individuals with family history or specific symptoms. Always ask your doctor about personal risk factors.
How often would I need follow-up tests if I have this mutation?
If you have the mutation, follow-up depends on your doctor’s recommendation. This may include periodic iron level checks or other genetic counseling based on your health status.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy