HFE Gene Mutations
The HFE Gene Mutations test screens for mutations in the HFE gene, commonly associated with hereditary hemochromatosis. This genetic disorder causes excessive iron absorption and accumulation in the body, leading to organ damage. Early detection allows for iron overload management and prevents complications.
HFE Gene Mutations Test in New Delhi Overview
No special preparations needed
- Hfe Gene Mutations
- Clinical Details
The HFE gene mutations test detects genetic changes in the HFE gene, which regulates iron absorption. Mutations in this gene, particularly C282Y and H63D, can lead to hereditary hemochromatosis (HH), a condition causing excessive iron accumulation in the body.
Testing is recommended for individuals with:
- A family history of hereditary hemochromatosis
- Unexplained high iron levels or ferritin
- Symptoms such as fatigue, joint pain, or liver dysfunction
A blood sample is collected and analyzed using polymerase chain reaction (PCR) or DNA sequencing to identify HFE gene mutations.
- C282Y homozygous: High risk of developing HH.
- C282Y/H63D compound heterozygous: Moderate risk of iron overload.
H63D homozygous or heterozygous: Low risk, but monitoring may be necessary.
Yes, a positive result guides early intervention through phlebotomy or chelation therapy to prevent organ damage caused by iron overload.
Test code
RD1459
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Edta Whole Blood | Lavender Vacutainer | 2 ML |
Specimen stability information
Edta Whole Blood
Collection instructions
Clinical History
Specimen rejection criteria
Test run frequency
Every Day TIME - 10:30
Turn around time
8 Working Days
Performing locations
Department
- Advanced Molecular Diagnostics R&d
CPT and Loinc codes
Package price
₹7700
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₹7700